Publications:

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Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Peerj

Shahid, Muhammad M; Azfaralariff, Ahmad A; Tufail, Muhammad M; Hussain Khan, Nazeer N; Abdulkareem Najm, Ahmed A; Firasat, Sabika S; Zubair, Muhammad M; Fazry, Shazrul S; Law, Douglas D

Publication Date: 2022

Variant appearance in text: CYP1B1: D449E

PubMed Link: 36518267

Variant Present in the following documents:

• peerj-10-14132-s001.xlsx, sheet 7
• peerj-10-14132-s002.xlsx, sheet 1
• peerj-10-14132-s001.xlsx, sheet 2
• peerj-10-14132-s001.xlsx, sheet 3

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs1056837

PubMed Link: 35802478

Variant Present in the following documents:

• Main text
• noac171.pdf

View BVdb publication page

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine

Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B

Publication Date: 2022-04-28

Variant appearance in text: rs1056837

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.pdf

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Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota.

The Pharmacogenomics Journal

Lopes, Guilherme S GS; Lopes, Jaime L JL; Bielinski, Suzette J SJ; Armasu, Sebastian M SM; Zhu, Ye Y; Cavanaugh, Dana C DC; Moyer, Ann M AM; Jacobson, Debra J DJ; Wang, Liwei L; Jiang, Ruoxiang R; St Sauver, Jennifer L JL; Larson, Nicholas B NB

Publication Date: 2022-03

Variant appearance in text: rs1056837

PubMed Link: 35102242

Variant Present in the following documents:

• Main text
• 41397_2022_Article_265.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: rs1056837

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report.

World Journal Of Clinical Cases

Wu, Jian J; Yuan, Yuan Y; Wang, Xin X; Shao, Dong-Ying DY; Liu, Li-Guo LG; He, Jian J; Li, Peng P

Publication Date: 2021-05-06

Variant appearance in text: rs1056837

PubMed Link: 33969094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Translational Vision Science & Technology

Lang, Elena E; Koller, Samuel S; Bähr, Luzy L; Töteberg-Harms, Marc M; Atac, David D; Roulez, Françoise F; Bahr, Angela A; Steindl, Katharina K; Feil, Silke S; Berger, Wolfgang W; Gerth-Kahlert, Christina C

Publication Date: 2020-06

Variant appearance in text: rs1056837

PubMed Link: 32832252

Variant Present in the following documents:

• Main text
• tvst-9-7-47.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: rs1056837

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.

Nature Communications

Choi, Jiyeon J; Zhang, Tongwu T; Vu, Andrew A; Ablain, Julien J; Makowski, Matthew M MM; Colli, Leandro M LM; Xu, Mai M; Hennessey, Rebecca C RC; Yin, Jinhu J; Rothschild, Harriet H; Gräwe, Cathrin C; Kovacs, Michael A MA; Funderburk, Karen M KM; Brossard, Myriam M; Taylor, John J; Pasaniuc, Bogdan B; Chari, Raj R; Chanock, Stephen J SJ; Hoggart, Clive J CJ; Demenais, Florence F; Barrett, Jennifer H JH; Law, Matthew H MH; Iles, Mark M MM; Yu, Kai K; Vermeulen, Michiel M; Zon, Leonard I LI; Brown, Kevin M KM

Publication Date: 2020-06-01

Variant appearance in text: rs1056837

PubMed Link: 32483191

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1056837

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Associations of CYP1 polymorphisms with risk of prostate cancer: an updated meta-analysis.

Bioscience Reports

Zhu, Wei W; Liu, Hailang H; Wang, Xinguang X; Lu, Jinjin J; Zhang, Huiping H; Wang, Shaogang S; Yang, Weimin W

Publication Date: 2019-03-29

Variant appearance in text: rs1056837

PubMed Link: 30765615

Variant Present in the following documents:

• Main text
• bsr-39-bsr20181876.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1056837

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Influence of lifestyle choices on risks of CYP1B1 polymorphisms for prostate cancer.

Journal Of Cellular And Molecular Medicine

Kato, Taku T; Hashimoto, Yutaka Y; Wong, Ryan K RK; Mitsui, Yozo Y; Maekawa, Shigekatsu S; Chang, Inik I; Shahryari, Varahram V; Yamamura, Soichiro S; Majid, Shahana S; Saini, Sharanjot S; Tabatabai, Z Laura ZL; Dahiya, Rajvir R; Deguchi, Takashi T; Tanaka, Yuichiro Y

Publication Date: 2018-10

Variant appearance in text: rs1056837

PubMed Link: 30133114

Variant Present in the following documents:

• Main text
• JCMM-22-4676.pdf

View BVdb publication page

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Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology

Cust, Anne E AE; Drummond, Martin M; Kanetsky, Peter A PA; , ; , ; Goldstein, Alisa M AM; Barrett, Jennifer H JH; MacGregor, Stuart S; Law, Matthew H MH; Iles, Mark M MM; Bui, Minh M; Hopper, John L JL; Brossard, Myriam M; Demenais, Florence F; Taylor, John C JC; Hoggart, Clive C; Brown, Kevin M KM; Landi, Maria Teresa MT; Newton-Bishop, Julia A JA; Mann, Graham J GJ; Bishop, D Timothy DT

Publication Date: 2018-12

Variant appearance in text: rs1056837

PubMed Link: 29890168

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Assessment of interaction between maternal polycyclic aromatic hydrocarbons exposure and genetic polymorphisms on the risk of congenital heart diseases.

Scientific Reports

Li, Nana N; Mu, Yi Y; Liu, Zhen Z; Deng, Ying Y; Guo, Yixiong Y; Zhang, Xuejuan X; Li, Xiaohong X; Yu, Ping P; Wang, Yanping Y; Zhu, Jun J

Publication Date: 2018-02-15

Variant appearance in text: rs1056837

PubMed Link: 29449662

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21380.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1056837

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Human Genome Variation

Rauf, Bushra B; Irum, Bushra B; Kabir, Firoz F; Firasat, Sabika S; Naeem, Muhammad Asif MA; Khan, Shaheen N SN; Husnain, Tayyab T; Riazuddin, Sheikh S; Akram, Javed J; Riazuddin, S Amer SA

Publication Date: 2016

Variant appearance in text: rs1056837

PubMed Link: 27508083

Variant Present in the following documents:

• Main text
• hgv201621.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1056837

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP1B1: D449E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

Plos One

de Melo, Mônica Barbosa MB; Mandal, Anil K AK; Tavares, Ivan M IM; Ali, Mohammed Hasnat MH; Kabra, Meha M; de Vasconcellos, José Paulo Cabral JP; Senthil, Sirisha S; Sallum, Juliana M F JM; Kaur, Inderjeet I; Betinjane, Alberto J AJ; Moura, Christiane R CR; Paula, Jayter S JS; Costa, Karita A KA; Sarfarazi, Mansoor M; Paolera, Mauricio Della MD; Finzi, Simone S; Ferraz, Victor E F VE; Costa, Vital P VP; Belfort, Rubens R; Chakrabarti, Subhabrata S

Publication Date: 2015

Variant appearance in text: rs1056837

PubMed Link: 25978063

Variant Present in the following documents:

• Main text
• pone.0127147.pdf

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1056837

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs1056837

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.

Molecular Vision

Sheikh, Shakeel Ahmed SA; Waryah, Ali Muhammad AM; Narsani, Ashok Kumar AK; Shaikh, Hina H; Gilal, Imtiaz Ahmed IA; Shah, Khairuddin K; Qasim, Muhammad M; Memon, Azam Iqbal AI; Kewalramani, Pitambar P; Shaikh, Naila N

Publication Date: 2014

Variant appearance in text: rs1056837

PubMed Link: 25018621

Variant Present in the following documents:

• Main text
• mv-v20-991.pdf

View BVdb publication page

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Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: CYP1B1: D449E; rs1056837

PubMed Link: 24340040

Variant Present in the following documents:

• pone.0082562.s002.xlsx, sheet 1

View BVdb publication page

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Significant interactions between maternal PAH exposure and haplotypes in candidate genes on B[a]P-DNA adducts in a NYC cohort of non-smoking African-American and Dominican mothers and newborns.

Carcinogenesis

Iyer, Shoba S; Perera, Frederica F; Zhang, Bingzhi B; Chanock, Stephen S; Wang, Shuang S; Tang, Deliang D

Publication Date: 2014-01

Variant appearance in text: rs1056837

PubMed Link: 24177223

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs1056837

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.

Molecular Vision

Dong, Shuqian S; Yang, Jingyun J; Yu, Weihong W; Kota, Pravina P; Xia, Xiaobo X; Xu, Huizhuo H

Publication Date: 2012

Variant appearance in text: rs1056837

PubMed Link: 22509109

Variant Present in the following documents:

• Main text
• mv-v18-786.pdf

View BVdb publication page

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Gene-environment interactions on growth trajectories.

Genetic Epidemiology

Wang, Shuang S; Xiong, Wei W; Ma, Weiping W; Chanock, Stephen S; Jedrychowski, Wieslaw W; Wu, Rongling R; Perera, Frederica P FP

Publication Date: 2012-04

Variant appearance in text: rs1056837

PubMed Link: 22311237

Variant Present in the following documents:

• Main text

View BVdb publication page

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Methods for detecting interactions between imprinted genes and environmental exposures using birth cohort designs with mother-offspring pairs.

Human Heredity

Wang, Shuang S; Yu, Zhaoxia Z; Miller, Rachel L RL; Tang, Deliang D; Perera, Frederica P FP

Publication Date: 2011

Variant appearance in text: rs1056837

PubMed Link: 21778739

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia.

Carcinogenesis

Wang, Hansong H; Yamamoto, Jennifer F JF; Caberto, Christian C; Saltzman, Barbara B; Decker, Robert R; Vogt, Thomas M TM; Yokochi, Lance L; Chanock, Stephen S; Wilkens, Lynne R LR; Le Marchand, Loïc L

Publication Date: 2011-02

Variant appearance in text: CYP1B1: D449E; rs1056837

PubMed Link: 21081473

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of gene-environment Interactions on mental development in African American, Dominican, and Caucasian mothers and newborns.

Annals Of Human Genetics

Wang, Shuang S; Chanock, Stephen S; Tang, Deliang D; Li, Zhigang Z; Edwards, Susan S; Jedrychowski, Wieslaw W; Perera, Frederica P FP

Publication Date: 2010-01

Variant appearance in text: rs1056837

PubMed Link: 19860743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Methods for detecting interactions between genetic polymorphisms and prenatal environment exposure with a mother-child design.

Genetic Epidemiology

Wang, Shuang S; Zheng, Tian T; Chanock, Stephen S; Jedrychowski, Wieslaw W; Perera, Frederica P FP

Publication Date: 2010-02

Variant appearance in text: rs1056837

PubMed Link: 19582785

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Molecular Vision

Firasat, Sabika S; Riazuddin, S Amer SA; Khan, Shaheen N SN; Riazuddin, Sheikh S

Publication Date: 2008

Variant appearance in text: rs1056837

PubMed Link: 18989382

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

American Journal Of Epidemiology

Chang, Man-Huei MH; Lindegren, Mary Lou ML; Butler, Mary A MA; Chanock, Stephen J SJ; Dowling, Nicole F NF; Gallagher, Margaret M; Moonesinghe, Ramal R; Moore, Cynthia A CA; Ned, Renée M RM; Reichler, Mary R MR; Sanders, Christopher L CL; Welch, Robert R; Yesupriya, Ajay A; Khoury, Muin J MJ; ,

Publication Date: 2009-01-01

Variant appearance in text: rs1056837

PubMed Link: 18936436

Variant Present in the following documents:

• Main text
• kwn286_1.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1056837

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Wang, Shuang S; Chanock, Stephen S; Tang, Deliang D; Li, Zhigang Z; Jedrychowski, Wieslaw W; Perera, Frederica P FP

Publication Date: 2008-02

Variant appearance in text: rs1056837

PubMed Link: 18268125

Variant Present in the following documents:

• Main text

View BVdb publication page

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