Publications:

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Genetics Research

Jaouadi, Hager H; Chehida, Amel Ben AB; Kraoua, Lilia L; Etchevers, Heather C HC; Argiro, Laurent L; Kasdallah, Nadia N; Blibech, Sonia S; Delague, Valérie V; Lévy, Nicolas N; Tebib, Néji N; Mrad, Ridha R; Abdelhak, Sonia S; Benkhalifa, Rym R; Zaffran, Stéphane S

Publication Date: 2019-04-29

Variant appearance in text: rs10254605

PubMed Link: 31030682

Variant Present in the following documents:

• S0016672319000041sup001.xlsx, sheet 2

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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: rs10254605

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page