Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.V99D
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GATA6

NM_005257.6:p.V99D

Associated Papers

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.

Williams SG et al.

Journal of Human Genetics, 2022

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.

Sharma A et al.

Elife, 2020

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

Škorić-Milosavljević D et al.

American Journal of Medical Genetics. Part A, 2019

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.

Zhang E et al.

Gene, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."