Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.G220S
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GATA6

NM_005257.6:p.G220S

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

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

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot.

Huang RT et al.

International Journal of Molecular Medicine, 2013

Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.

Wang J et al.

Dna and Cell Biology, 2012

[Identification of novel mutations in GATA6 gene associated with tetralogy of Fallot].

Zheng GF et al.

Zhonghua Yi Xue Za Zhi, 2012

A novel GATA6 mutation associated with congenital ventricular septal defect.

Zheng GF et al.

International Journal of Molecular Medicine, 2012

[Genetic screening for novel GATA4 mutations associated with congenital atrial septal defect].

Wang J et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2010

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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."