Publications:

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs12720737

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: ACE: 3380+5C>T; rs12720737

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

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A novel angiotensin I-converting enzyme mutation (S333W) impairs N-domain enzymatic cleavage of the anti-fibrotic peptide, AcSDKP.

Plos One

Danilov, Sergei M SM; Wade, Michael S MS; Schwager, Sylva L SL; Douglas, Ross G RG; Nesterovitch, Andrew B AB; Popova, Isolda A IA; Hogarth, Kyle D KD; Bhardwaj, Nakul N; Schwartz, David E DE; Sturrock, Edward D ED; Garcia, Joe G N JG

Publication Date: 2014

Variant appearance in text: rs12720737

PubMed Link: 24505347

Variant Present in the following documents:

• Main text
• pone.0088001.pdf

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