Publications:

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Identification and in vitro functional assessment of 10 CYP2C9 variants found in Chinese Han subjects.

Frontiers In Endocrinology

Zhang, Qing Q; Qi, Yuying Y; Wang, Shuanghu S; Zhao, Fangling F; Zou, Lili L; Zhou, Quan Q; Geng, Peiwu P; Hong, Yun Y; Yang, Hang H; Luo, Qingfeng Q; Cai, Jianping J; Wu, Hualan H; Wang, Dongxu D; Chen, Hao H; Yang, Jiefu J; Dai, Dapeng D

Publication Date: 2023

Variant appearance in text: CYP2C9: I327T; rs57505750

PubMed Link: 37008923

Variant Present in the following documents:

• Main text
• fendo-14-1139805.pdf

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Clinical significance of the series of CYP2C9*non3 variants, an unignorable predictor of warfarin sensitivity in Chinese population.

Frontiers In Cardiovascular Medicine

Wang, Dongxu D; Wu, Hualan H; Dong, Min M; Zhang, Qing Q; Zhao, Anxu A; Zhao, Xinlong X; Chong, Jia J; Du, Minghui M; Wang, Yan Y; Shi, Haifeng H; Wang, Shuanghu S; Wang, Fang F; Cai, Jianping J; Yang, Jiefu J; Dai, Dapeng D; Chen, Hao H

Publication Date: 2022

Variant appearance in text: CYP2C9: I327T

PubMed Link: 36505370

Variant Present in the following documents:

• Main text
• fcvm-09-1052521.pdf

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The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-12

Variant appearance in text: CYP2C9: I327T; rs57505750

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

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Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine

Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM

Publication Date: 2022

Variant appearance in text: CYP2C9: I327T

PubMed Link: 35761855

Variant Present in the following documents:

• Main text

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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: I327T

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

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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: rs57505750

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science

Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L

Publication Date: 2021-01

Variant appearance in text: CYP2C9: 980T>C; Ile327Thr; rs57505750

PubMed Link: 32931151

Variant Present in the following documents:

• CTS-14-204-s001.xlsx, sheet 1

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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: 980T>C; Ile327Thr; rs57505750

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

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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: rs57505750

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: CYP2C9: 980T>C; I327T

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP2C9: I327T; rs57505750

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

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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: rs57505750

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics

Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM

Publication Date: 2017-10

Variant appearance in text: CYP2C9: I327T; rs57505750

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

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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: rs57505750

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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Functional Characterization of Human CYP2C9 Allelic Variants in COS-7 Cells.

Frontiers In Pharmacology

Du, Huihui H; Wei, Zhiyun Z; Yan, Yucai Y; Xiong, Yuyu Y; Zhang, Xiaoqing X; Shen, Lu L; Ruan, Yunfeng Y; Wu, Xi X; Xu, Qingqing Q; He, Lin L; Qin, Shengying S

Publication Date: 2016

Variant appearance in text: CYP2C9: I327T

PubMed Link: 27199745

Variant Present in the following documents:

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics

Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C

Publication Date: 2009-01

Variant appearance in text: CYP2C9: I327T

PubMed Link: 19164093

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-169.pdf

View BVdb publication page

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