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: rs17242353

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.

Bmc Medical Genomics

De Castro-Orós, Isabel I; Pérez-López, Javier J; Mateo-Gallego, Rocio R; Rebollar, Soraya S; Ledesma, Marta M; León, Montserrat M; Cofán, Montserrat M; Casasnovas, Jose A JA; Ros, Emilio E; Rodríguez-Rey, Jose C JC; Civeira, Fernando F; Pocoví, Miguel M

Publication Date: 2014-04-07

Variant appearance in text: rs17242353

PubMed Link: 24708769

Variant Present in the following documents:

• Main text
• 1755-8794-7-17.pdf

View BVdb publication page