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: 1078G>C; Asp360His; rs144036596

PubMed Link: 36068297

Variant Present in the following documents:

• 41397_2022_288_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One

Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D

Publication Date: 2022

Variant appearance in text: CYP2C19: 1078G>C; Asp360His; rs144036596

PubMed Link: 35089958

Variant Present in the following documents:

• pone.0263137.s002.xlsx, sheet 1

View BVdb publication page

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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: rs144036596

PubMed Link: 34026292

Variant Present in the following documents:

• Main text
• main.pdf

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: rs144036596

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: CYP2C19: 1078G>C; D360H; rs144036596

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

View BVdb publication page

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget

Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-05-08

Variant appearance in text: CYP2C19: D360H

PubMed Link: 29844865

Variant Present in the following documents:

• oncotarget-09-23960-s003.xlsx, sheet 1

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: rs144036596

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: rs144036596

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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