Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.G469V
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GATA6

NM_005257.6:p.G469V

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

Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks.

Śmiech M et al.

Genes, 2020

From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.

Whitcomb J et al.

Iubmb Life, 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

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

Tucker NR et al.

Heart Rhythm, 2017

Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation.

Li J et al.

International Journal of Molecular Medicine, 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."