Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.Y323fs
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GATA6

NM_005257.6:p.Y323fs

Associated Papers

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.

Yue X et al.

Molecular Biotechnology, 2024

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

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

Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.

Chao CS et al.

Plos One, 2015

25706805 (PubMed )
Supplement: pone.0118449.s001.pdf

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.

Eifes S et al.

Clinical Case Reports, 2013

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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."