Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.V380M
Back to variants list

GATA4

NM_002052.5:p.V380M

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

Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.

Imam R et al.

Cardiology in the Young, 2024

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

Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.

Secolin R et al.

Frontiers in Genetics, 2021

33841501 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Data_2

Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect.

Zhao Z et al.

Genesis (new York, N.y. : 2000), 2019

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.

Kalayinia S et al.

Journal of Clinical Laboratory Analysis, 2019

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.

Dixit R et al.

Human Mutation, 2018

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

Yoshida A et al.

Journal of Human Genetics, 2016

Novel GATA4 mutations in patients with congenital ventricular septal defects.

Yang YQ et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012

GATA4 sequence variants in patients with congenital heart disease.

Tomita-Mitchell A et al.

Journal of Medical Genetics, 2007

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

Salazar M et al.

European Journal of Medical Genetics, 0

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Granados-Riveron JT et al.

Congenital Heart Disease, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."