Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A177A
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GATA4

NM_001308093.3:p.A177A

Associated Papers

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

GATA4 Loss-of-Function Mutation and the Congenitally Bicuspid Aortic Valve.

Li RG et al.

The American Journal of Cardiology, 2018

Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.

Liu Y et al.

Pediatric Cardiology, 2017

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E et al.

Plos One, 2013

Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.

Wang J et al.

Pathology, 2011

GATA4 mutations in 357 unrelated patients with congenital heart malformation.

Butler TL et al.

Genetic Testing and Molecular Biomarkers, 2010

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

Xiong F et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."