Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.Y265*
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GATA6

NM_005257.6:p.Y265*

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 is a regulator of sinus node development and heart rhythm.

Gharibeh L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

33443158 (PubMed )
Supplement: pnas.2007322118.sapp.pdf

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

Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation.

Yang YQ et al.

International Journal of Cardiology, 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."