Publications:

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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: 271G>C; G91R; rs118203756

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: rs118203756

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

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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: Gly91Arg

PubMed Link: 30464555

Variant Present in the following documents:

• Main text
• idr-11-2129.pdf

View BVdb publication page

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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: CYP2C19: G91R; rs118203756

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: G91R; rs118203756

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: rs118203756

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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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: CYP2C19: G91R; rs118203756

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: rs118203756

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications

Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW

Publication Date: 2015-11-02

Variant appearance in text: rs118203756

PubMed Link: 26522830

Variant Present in the following documents:

• ncomms9718-s2.xlsx, sheet 4

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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: G91R

PubMed Link: 23087703

Variant Present in the following documents:

• Main text
• fgene-03-00206.pdf

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PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19.

Pharmacogenetics And Genomics

Scott, Stuart A SA; Sangkuhl, Katrin K; Shuldiner, Alan R AR; Hulot, Jean-Sébastien JS; Thorn, Caroline F CF; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2012-02

Variant appearance in text: CYP2C19: 271G>C; G91R; rs118203756

PubMed Link: 22027650

Variant Present in the following documents:

• Main text

View BVdb publication page

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