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: rs12721620

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs12721620

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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Characterization of the genetic variation present in CYP3A4 in three South African populations.

Frontiers In Genetics

Drögemöller, Britt B; Plummer, Marieth M; Korkie, Lundi L; Agenbag, Gloudi G; Dunaiski, Anke A; Niehaus, Dana D; Koen, Liezl L; Gebhardt, Stefan S; Schneider, Nicol N; Olckers, Antonel A; Wright, Galen G; Warnich, Louise L

Publication Date: 2013

Variant appearance in text: rs12721620

PubMed Link: 23423246

Variant Present in the following documents:

• Main text
• fgene-04-00017.pdf

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Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.

The Pharmacogenomics Journal

Perera, M A MA; Thirumaran, R K RK; Cox, N J NJ; Hanauer, S S; Das, S S; Brimer-Cline, C C; Lamba, V V; Schuetz, E G EG; Ratain, M J MJ; Di Rienzo, A A

Publication Date: 2009-02

Variant appearance in text: rs12721620

PubMed Link: 18825162

Variant Present in the following documents:

• Main text

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