Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.Y235S
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GATA6

NM_005257.6:p.Y235S

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: 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

Gain-of-function mutations in GATA6 lead to atrial fibrillation.

Tucker NR et al.

Heart Rhythm, 2017

GATA6 loss-of-function mutation in atrial fibrillation.

Yang YQ et al.

European Journal of Medical Genetics, 2012

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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."