Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A6V
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GATA4

NM_001308093.3:p.A6V

Associated Papers

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

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

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.

Zhang X et al.

Plos One, 2016

27391137 (PubMed )
Supplement: pone.0158904.s003.pdf

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Prendiville T et al.

Cold Spring Harbor Perspectives in Medicine, 2014

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.

Lang J et al.

Molecular Diagnosis & Therapy, 2013

GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India.

Dinesh SM et al.

Genetic Testing and Molecular Biomarkers, 2011

A novel GATA4 mutation responsible for congenital ventricular septal defects.

Wang J et al.

International Journal of Molecular Medicine, 2011

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.

Guida V et al.

Disease Markers, 2010

GATA4 mutations in 486 Chinese patients with congenital heart disease.

Zhang W et al.

European Journal of Medical Genetics, 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."