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29 documents found
1: Title: Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma.
Authors: Inoue, Keisuke, et.al. .
Journal: Journal of cancer research and clinical oncology (J Cancer Res Clin Oncol), 2019 .
Snippet: PURPOSE: Cleft palate transmembrane protein 1 (Clptm1) and its paralog protein, Cisplatin resistance-related protein 9 (CRR9) constitute a highly conserved protein family, from Caenorhabditis elegans to Homo sapiens.
Affiliation: Department of Oral and Maxillofacial Surgery, Gifu University Graduate School of Medicine, Yanagido, Gifu, 501-1193, Japan. Department of Pathology and Translational Research, Gifu University Graduate School of Medicine, Yanagido, Gifu, 501-1193, Japan. Department of Pathology and Translational Research, Gifu University Graduate School of Medicine, Yanagido, Gifu, 501-1193, Japan. takeutit08@gmail.com. .
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2: Title: Genetic effects and gene-by-education interactions on episodic memory performance and decline in an aging population.
Authors: Smith, Jennifer A, et.al. .
Journal: Social science & medicine (1982) (Soc Sci Med), 2018 .
Snippet: In both ethnicities, low memory performance was associated with CLPTM1 genotype (rs10416261) only for those with less than high school education, and effects persisted after adjusting for APOE ε4.
Affiliation: Department of Epidemiology, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI, 48109, USA; Survey Research Center, Institute for Social Research, University of Michigan, 426 Thompson St, Ann Arbor, MI, 48104, USA. Electronic address: smjenn@umich.edu. Department of Epidemiology, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI, 48109, USA. Electronic address: mjkho@umich.edu. Department of Epidemiology, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI, 48109, USA. Electronic address: zhaowei@umich.edu. Department of Epidemiology, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI, 48109, USA. Electronic address: miayu@umich.edu. Survey Research Center, Institute for Social Research, University of Michigan, 426 Thompson St, Ann Arbor, MI, 48104, USA. Electronic address: cmsm@umich.edu. Survey Research Center, Institute for Social Research, University of Michigan, 426 Thompson St, Ann Arbor, MI, 48104, USA. Electronic address: jfaul@umich.edu. .
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3: Title: rs401681 and rs402710 confer lung cancer susceptibility by regulating TERT expression instead of CLPTM1L in East Asian.
Authors: Yang, Yu-Chen, et.al. .
Journal: Carcinogenesis, 2018 .
Snippet: Previous genome-wide association study observed that rs401681 within CLPTM1L (CLPTM1 like) was significantly associated with lung cancer.
Affiliation: National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest China, Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi, P. R. China. Department of Respiratory and Critical Care Medicine, Nanfang Hospital/The First School of Clinical Medicine, Southern Medical University, Guangzhou, Guangdong, China. Department of Respiratory Critical Care Medicine, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China. Department of Thoracic Surgery, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China. Provincial Demonstration Center for Experimental Biology Education, Shaanxi Normal University, Xi'an, Shaanxi, P. R. China. .
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4: Title: On the Path from Proteomics to Function: GABAAR Trafficking Takes a Turn.
Authors: Noam, Yoav, et.al. .
Journal: Neuron, Vol. 97 (3): 479-481, 2018 .
Snippet: (2018) identify a novel GABAA receptor (GABAAR)-interacting protein, Clptm1, that regulates forward trafficking of GABAARs and inhibitory transmission.
Affiliation: Department of Cellular and Molecular Physiology, Department of Neuroscience, CNNR program, Yale University School of Medicine, New Haven, CT 06520, USA. Department of Cellular and Molecular Physiology, Department of Neuroscience, CNNR program, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: susumu.tomita@yale.edu. .
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5: Title: Clptm1 Limits Forward Trafficking of GABAA Receptors to Scale Inhibitory Synaptic Strength.
Authors: Ge, Yuan, et.al. .
Journal: Neuron, 2018 .
Snippet: Using tandem affinity purification from tagged GABAAR γ2 subunit transgenic mice and proteomic analysis, we isolated several GABAAR-associated proteins, including Cleft lip and palate transmembrane protein 1 (Clptm1).
Affiliation: Djavad Mowafaghian Centre for Brain Health and Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 2B5, Canada. Department of Biochemistry and Molecular Biology and Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T 1Z3, Canada. Department of Anatomy and Neurobiology, Washington University, St. Louis, MO 63110, USA. Department of Biological Structure, University of Washington, Seattle, WA 98195, USA. Djavad Mowafaghian Centre for Brain Health and Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 2B5, Canada. Electronic address: acraig@mail.ubc.ca. .
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6: Title: TERT-CLPTM1 locus polymorphism (rs401681) is associated with the prognosis of hepatocellular carcinoma.
Authors: Lee, Hye Won, et.al. .
Journal: OncoTargets and therapy (Onco Targets Ther), Vol. 10, 2017 .
Snippet: Telomere length is associated with the development of hepatocellular carcinoma (HCC), and recent studies have focused on the genetic alteration or polymorphism in telomere-maintaining genes.
Affiliation: Department of Pathology, Keimyung University School of Medicine, Daegu, Republic of Korea. Department of Anatomy, Keimyung University School of Medicine, Daegu, Republic of Korea. Department of Pathology, Kyungpook National University School of Medicine, Daegu, Republic of Korea. Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Republic of Korea. .
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7: Title: A TERT-CLPTM1 locus polymorphism (rs401681) is associated with EGFR mutation in non-small cell lung cancer.
Authors: Lee, Deok Heon, et.al. .
Journal: Pathology, research and practice (Pathol Res Pract), Vol. 213 (11): 1340-1343, 2017 .
Snippet: The relationship between rs401681 variants and telomere length was analyzed in 134 non-small cell lung cancers (NSCLCs).
Affiliation: Department of Thoracic and Cardiovascular Surgery, Kyungpook National University Hospital, Kyungpook National University School of Medicine, Daegu, Republic of Korea. Department of Anatomy, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Republic of Korea. Department of Anatomy, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Republic of Korea. Electronic address: anato82@dsmc.or.kr. .
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8: Title: Potential dual function of PQ-loop proteins such as cystinosin.
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 292 (36): 15133, 2017 .
No Abstract available.
Affiliation: From the Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge Metabolic Research Laboratories, CB2 OQQ Cambridge, United Kingdom vs317@cam.ac.uk. .
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9: Title: The role of TERT-CLPTM1L SNPs, hTERT expression and telomere length in the pathogenesis of oral squamous cell carcinoma.
Authors: Carkic, Jelena, et.al. .
Journal: Journal of oral science (J Oral Sci), Vol. 58 (4): 449-458, 2016 .
Snippet: The aim of this study was to assess TERT-CLPTM1L single-nucleotide polymorphisms (SNPs) (rs402710 C/T in the CLPTM1L gene; rs2736100 A/C and rs2736098 G/A in the TERT gene) as risk factors for development of oral squamous cell carcinoma (OSCC), and to investigate the relationship between the analyzed polymorphisms, relative telomere length (RTL), telomerase expression and clinicopathologic characteristics of OSCC in a Serbian population.
Affiliation: Institute of Human Genetics, School of Dental Medicine, University of Belgrade. .
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10: Title: Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation.
Journal: BioEssays : news and reviews in molecular, cellular and developmental biology (Bioessays), Vol. 38 (5): 427-39, 2016 .
Snippet: The theory is supported by numerous independent data from the literature, and provides a mechanistic link with otherwise unrelated disorders, such as cleft lip and palate, thyroid dysfunction, restless legs syndrome, depression, ataxia, hearing loss, fibromyalgia, dermatitis herpetiformis, schizophrenia, toxoplasmosis, anemia, osteopenia, Fabry disease, Barret's adenocarcinoma, neuroblastoma, urinary incontinence, recurrent miscarriage, cardiac anomalies, reduced risk of breast cancer, stiff person syndrome, etc.
Affiliation: Department of Biochemistry and Molecular Biology, School of Pharmacy, University of Seville, Spain. .
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11: Title: Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.
Authors: Childs, Erica J, et.al. .
Journal: Nature genetics (Nat Genet), Vol. 47 (8): 911-6, 2015 .
Snippet: We replicated previously reported associations at 9q34.2 (ABO), 13q22.1 (KLF5), 5p15.33 (TERT and CLPTM1), 13q12.2
Affiliation: Department of Epidemiology, Johns Hopkins School of Public Health, Baltimore, Maryland, USA. Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA. 1] Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] Department of Biology, University of Pisa, Pisa, Italy. Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California, USA. Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada. Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA. Department of Gastrointestinal Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA. Department of Population Health, QIMR Berghofer Medical Research Institute, Kelvin Grove,Queensland, Australia. Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA. International Agency for Research on Cancer (IARC), Lyon, France. Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA. Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. Laboratory for Experimental Oncology and Radiobiology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany. 1] Department for Determinants of Chronic Diseases (DCD), National Institute for Public Health and the Environment (RIVM), Bilthoven, the Netherlands. [2] Department of Gastroenterology and Hepatology, University Medical Centre, Utrecht, the Netherlands. [3] Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK. [4] Department of Social and Preventive Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany. Digestive and Liver Disease Unit, 'Sapienza' University of Rome, Rome, Italy. Università Vita Salute San Raffaele and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, Milan, Italy. 1] Department of Surgery, University Health Network, University of Toronto, Toronto, Ontario, Canada. [2] Princess Margaret Cancer Center, University Health Network, Toronto, Ontario, Canada. 1] Cancer Care Ontario, University of Toronto, Toronto, Ontario, Canada. [2] Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada. Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute and Medical Faculty Masaryk University, Brno, Czech Republic. 1] Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA. [2] Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. Department of Surgery, Unit of Experimental Surgical Pathology, University Hospital of Pisa, Pisa, Italy. Department of Medical Sciences, Laboratory of Biology, School of Medicine, University of Athens, Athens, Greece. Department of Radiation Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Institute of Hygiene and Epidemiology, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic. Department of Preventive Medicine, Faculty of Medicine, Palacky University, Olomouc, Czech Republic. Cancer Epidemiology Unit, University of Oxford, Oxford, UK. Department of Gastroenterology, Lithuanian University of Health Sciences, Kaunas, Lithuania. Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA. Department of Biology, Section of Genetics, University of Pisa, Pisa, Italy. Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut, USA. Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland. Department of Oncology, Azienda USL 1 Massa Carrara, Massa Carrara, Italy. Laboratory of Toxicogenomics, Institute of Public Health, Prague, Czech Republic. National Institute for Health Research (NIHR) Pancreas Biomedical Research Unit, Liverpool Clinical Trials Unit and Cancer Research UK Clinical Trials Unit, Department of Molecular and Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, Liverpool, UK. Department of Surgery, Gastroenterology and Oncology, University of Padua, Padua, Italy. Pancreas Unit, Department of Digestive Diseases, Sant'Orsola-Malpighi Hospital, Bologna, Italy. ARC-NET-Centre for Applied Research on Cancer, University and Hospital Trust of Verona, Verona, Italy. Nutritional Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Rockville, Maryland, USA. Department of General Surgery, University Hospital Heidelberg, Heidelberg, Germany. Division of Gastroenterology and Research Laboratory, IRCCS Scientific Institute and Regional General Hospital 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy. Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Academy of Sciences, Prague, Czech Republic. 1] Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA. [2] Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii, USA. 1] Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA. [2] Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA. .
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12: Title: Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk.
Journal: European journal of cancer (Oxford, England : 1990) (Eur J Cancer), Vol. 50 (18): 3168-77, 2014 .
Snippet: We examined the effect of 10 single nucleotide polymorphisms (SNPs) in the TERT gene (encoding telomerase), one SNP in the related TERT-CLPTM1L locus and one SNP in the TRF1 gene with telomere length, and its influence on melanoma risk in 970 Spanish cases and 733 Spanish controls.
Affiliation: Department of Hematology and Medical Oncology, Health Research Institute-INCLIVA, Valencia, Spain. Dermatology Unit, La Paz Hospital, Madrid, Spain. Dermatology Unit, Ramon y Cajal Hospital, Madrid, Spain. Dermatology Unit, Dr. Negrin Hospital, Gran Canaria, Spain. Department of Medicine, University Jaume I of Castellon, Castellon, Spain. Department of Hematology and Medical Oncology, Health Research Institute-INCLIVA, Valencia, Spain. Electronic address: gribasdespuig@gmail.com. .
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13: Title: Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency.
Authors: Okubo, Minoru, et.al. .
Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta), Vol. 438, 2015 .
Snippet: The 5' part of the breakpoint was located in an Alu Sx repetitive element in intron 1 of APOC2, whereas the 3' part of the breakpoint was in another Alu Sx between APOC2 and CLPTM1, a gene flanking APOC2.
Affiliation: Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan; Department of Endocrinology and Metabolism, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan. Electronic address: QFG00550@nifty.com. Department of Pediatrics, University Clinical Center Tuzla, 75000 Tuzla, Bosnia and Herzegovina. Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan. .
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14: Title: Association test based on SNP set: logistic kernel machine based test vs. principal component analysis.
Authors: Zhao, Yang, et.al. .
Journal: PloS one, Vol. 7 (9): e44978, 2012 .
Snippet: We also apply LKM and PCA to analyze two SNP sets extracted from an actual GWAS dataset on non-small cell lung cancer.
Affiliation: Department of Environmental Health, Harvard School of Public Health, Harvard University, Boston, Massachusetts, United States of America. .
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15: Title: The TERT variant rs2736100 is associated with colorectal cancer risk.
Authors: Kinnersley, B, et.al. .
Journal: British journal of cancer (Br J Cancer), Vol. 107 (6): 1001-8, 2012 .
Snippet: METHODS: We used data from six genome-wide association studies (GWAS) of CRC, linkage disequilibrium mapping and imputation, to examine the relationship between 73 single-nucleotide polymorphisms at 5p15.33 and CRC risk in detail.
Affiliation: Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK. .
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16: Title: Gene trio signatures as molecular markers to predict response to doxorubicin cyclophosphamide neoadjuvant chemotherapy in breast cancer patients.
Authors: Barros Filho, M C, et.al. .
Journal: Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] (Braz J Med Biol Res), Vol. 43 (12): 1225-31, 2010 .
Snippet: Among five trio combinations previously identified, defined by nine genes individually investigated (BZRP, CLPTM1, MTSS1, NOTCH1, NUP210, PRSS11, RPL37A, SMYD2, and XLHSRF-1), the most accurate were established by RPL37A, XLHSRF-1 based trios, with NOTCH1 or NUP210.
Affiliation: Departamento de Radiologia e Oncologia, Universidade de São Paulo, SP, Brasil. makoike@lim24.fm.usp.br .
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17: Title: The association of telomere length and genetic variation in telomere biology genes.
Authors: Mirabello, Lisa, et.al. .
Journal: Human mutation (Hum Mutat), Vol. 31 (9): 1050-8, 2010 .
Snippet: Recent genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) in genes encoding telomere-associated proteins (RTEL1 and TERT-CLPTM1) as markers of cancer risk.
Affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA. mirabellol@mail.nih.gov .
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18: Title: Human cleft lip and palate fibroblasts and normal nicotine-treated fibroblasts show altered in vitro expressions of genes related to molecular signaling pathways and extracellular matrix metabolism.
Authors: Baroni, Tiziano, et.al. .
Journal: Journal of cellular physiology (J Cell Physiol), Vol. 222 (3): 748-56, 2010 .
Snippet: Interestingly, nicotine treatment regulated gene expressions of CD44 and CLPTM1, two candidate genes for CLP.
Affiliation: Department of Experimental Medicine and Biochemical Sciences, University of Perugia, via del Giochetto, 06100 Perugia, Italy. tbaroni@unipg.it .
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19: Title: Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
Authors: Carter, Tonia C, et.al. .
Journal: Birth defects research. Part A, Clinical and molecular teratology (Birth Defects Res A Clin Mol Teratol), Vol. 88 (2): 84-93, 2010 .
Snippet: We used a large, ethnically homogenous study population to test whether reported associations between nonsyndromic oral clefts and 12 genes (CLPTM1, CRISPLD2, FGFR2, GABRB3, GLI2, IRF6, PTCH1, RARA, RYK, SATB2, SUMO1, TGFA) could be confirmed.
Affiliation: Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA. carterto@mail.nih.gov .
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20: Title: The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung.
Authors: Zienolddiny, Shanbeh, et.al. .
Journal: Carcinogenesis, Vol. 30 (8): 1368-71, 2009 .
Snippet: Genome-wide association studies have provided evidence that common variation at 5p15.33 [telomerase reverse transcriptase (TERT)-cleft lip and palate transmembrane 1-like (CLPTM1L)], 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) influences lung cancer risk and cancer types with strong environmental risk factors.
Affiliation: Section of Toxicology, Department of Biological and Chemical Working Environment, National Institute of Occupational Health, N-0033, Oslo, Norway. shan.zienolddiny@stami.no .
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