Publications:

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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: CYP2C19: Ala161Pro; rs181297724

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_288_MOESM4_ESM.xlsx, sheet 1
• 41397_2022_Article_288.pdf

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Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Journal Of Advanced Research

Juang, Jyh-Ming Jimmy JJ; Lu, Tzu-Pin TP; Su, Ming-Wei MW; Lin, Chien-Wei CW; Yang, Jenn-Hwai JH; Chu, Hou-Wei HW; Chen, Chien-Hsiun CH; Hsiao, Yi-Wen YW; Lee, Chien-Yueh CY; Chiang, Li-Mei LM; Yu, Qi-You QY; Hsiao, Chuhsing Kate CK; Chen, Ching-Yu Julius CJ; Wu, Pei-Ei PE; Pai, Chien-Hua CH; Chuang, Eric Y EY; Shen, Chen-Yang CY

Publication Date: 2021-05

Variant appearance in text: rs181297724

PubMed Link: 34026292

Variant Present in the following documents:

• Main text
• main.pdf

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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: rs181297724

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.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: CYP2C19: 481G>C; A161P; rs181297724

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CYP2C19: A161P

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 51

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The effects of cytochrome P450 2C19 polymorphism on the metabolism of voriconazole in vitro.

Infection And Drug Resistance

Xu, Ren-Ai RA; Gu, Er-Min EM; Liu, Teng-Hui TH; Ou-Yang, Qiu-Geng QG; Hu, Guo-Xin GX; Cai, Jian-Ping JP

Publication Date: 2018

Variant appearance in text: CYP2C19: A161P

PubMed Link: 30464555

Variant Present in the following documents:

• Main text
• idr-11-2129.pdf

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Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine.

Journal Of Personalized Medicine

Brown, Sherry-Ann SA; Pereira, Naveen N

Publication Date: 2018-01-30

Variant appearance in text: CYP2C19: A161P

PubMed Link: 29385765

Variant Present in the following documents:

• Main text
• jpm-08-00008.pdf

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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: rs181297724

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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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: CYP2C19: Ala161Pro; rs181297724

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2
• fpc-27-089.pdf
• fpc-27-089-s006.xlsx, sheet 2

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The global spectrum of protein-coding pharmacogenomic diversity.

The Pharmacogenomics Journal

Wright, G E B GEB; Carleton, B B; Hayden, M R MR; Ross, C J D CJD

Publication Date: 2018-01

Variant appearance in text: rs181297724

PubMed Link: 27779249

Variant Present in the following documents:

• Main text
• tpj201677a.pdf

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Genetic polymorphisms and phenotypic analysis of drug-metabolizing enzyme CYP2C19 in a Li Chinese population.

International Journal Of Clinical And Experimental Pathology

Ding, Yipeng Y; Xu, Dongchuan D; Zhang, Xiyang X; Yang, Hua H; Geng, Tingting T; He, Ping P; Yao, Jinjian J; Yi, Shengyang S; Xu, Heping H; Wu, Duoyi D; Wang, Xiang X; Jin, Tianbo T

Publication Date: 2015

Variant appearance in text: CYP2C19: Ala161Pro; rs181297724

PubMed Link: 26722519

Variant Present in the following documents:

• Main text

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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: rs181297724

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: CYP2C19: A161P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Molecular mechanisms of genetic variation and transcriptional regulation of CYP2C19.

Frontiers In Genetics

Helsby, Nuala Ann NA; Burns, Kathryn Elisa KE

Publication Date: 2012

Variant appearance in text: CYP2C19: A161P

PubMed Link: 23087703

Variant Present in the following documents:

• Main text
• fgene-03-00206.pdf

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