Publications:

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: CYP2C9: 371G>T; Arg124Leu; rs12414460

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs12414460

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

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CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Clinical And Translational Science

Zhang, Lingxin L; Sarangi, Vivekananda V; Moon, Irene I; Yu, Jia J; Liu, Duan D; Devarajan, Sandhya S; Reid, Joel M JM; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard R

Publication Date: 2020-07

Variant appearance in text: CYP2C9: 371G>T; Arg124Leu; rs12414460

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

View BVdb publication page

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Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations.

Biomolecules & Therapeutics

Cho, Myung-A MA; Yoon, Jihoon G JG; Kim, Vitchan V; Kim, Harim H; Lee, Rowoon R; Lee, Min Goo MG; Kim, Donghak D

Publication Date: 2019-11-01

Variant appearance in text: rs12414460

PubMed Link: 31484472

Variant Present in the following documents:

• Main text
• bt-27-577.pdf

View BVdb publication page

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Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs12414460

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs12414460

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs12414460

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians.

Bmc Medical Genetics

Suriapranata, Ivet M IM; Tjong, Wen Ye WY; Wang, Tingliang T; Utama, Andi A; Raharjo, Sunu B SB; Yuniadi, Yoga Y; Tai, Susan Sw SS

Publication Date: 2011-06-06

Variant appearance in text: rs12414460

PubMed Link: 21639946

Variant Present in the following documents:

• Main text
• 1471-2350-12-80.pdf

View BVdb publication page

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