Publications:

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Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters.

Pharmacogenomics

Kim, Vera V; Wal, Thijs van der TV; Nishi, Miriam Yumie MY; Montenegro, Luciana Ribeiro LR; Carrilho, Flair Jose FJ; Hoshida, Yujin Y; Ono, Suzane Kioko SK

Publication Date: 2020-06

Variant appearance in text: rs915909

PubMed Link: 32486903

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: rs915909

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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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: rs915909

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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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs915909

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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: rs915909

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Human Reproduction (Oxford, England)

Tšuiko, O O; Nõukas, M M; Žilina, O O; Hensen, K K; Tapanainen, J S JS; Mägi, R R; Kals, M M; Kivistik, P A PA; Haller-Kikkatalo, K K; Salumets, A A; Kurg, A A

Publication Date: 2016-08

Variant appearance in text: rs915909

PubMed Link: 27301361

Variant Present in the following documents:

• supp_dew142_dew142supp_table3.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: rs915909

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: rs915909

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Effects of polymorphisms in alcohol metabolism and oxidative stress genes on survival from head and neck cancer.

Cancer Epidemiology

Hakenewerth, Anne M AM; Millikan, Robert C RC; Rusyn, Ivan I; Herring, Amy H AH; Weissler, Mark C MC; Funkhouser, William K WK; North, Kari E KE; Barnholtz-Sloan, Jill S JS; Olshan, Andrew F AF

Publication Date: 2013-08

Variant appearance in text: rs915909

PubMed Link: 23632049

Variant Present in the following documents:

• Main text

View BVdb publication page

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Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.

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

Hakenewerth, Anne M AM; Millikan, Robert C RC; Rusyn, Ivan I; Herring, Amy H AH; North, Kari E KE; Barnholtz-Sloan, Jill S JS; Funkhouser, William F WF; Weissler, Mark C MC; Olshan, Andrew F AF

Publication Date: 2011-11

Variant appearance in text: rs915909

PubMed Link: 21940907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.

The Pharmacogenomics Journal

Lee, M-Y MY; Mukherjee, N N; Pakstis, A J AJ; Khaliq, S S; Mohyuddin, A A; Mehdi, S Q SQ; Speed, W C WC; Kidd, J R JR; Kidd, K K KK

Publication Date: 2008-10

Variant appearance in text: rs915909

PubMed Link: 18663376

Variant Present in the following documents:

• Main text

View BVdb publication page

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