Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.G93A
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GATA4

NM_001308093.3:p.G93A

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

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

Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.

Soheili F et al.

Congenital Heart Disease, 2018

A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease.

Shaker O et al.

Turkish Journal of Medical Sciences, 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

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

Mutation spectrum of GATA4 associated with congenital atrial septal defects.

Yang YQ et al.

Archives of Medical Science : Ams, 2013

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

Wang E et al.

Plos One, 2013

23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations

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

Dinesh SM et al.

Genetic Testing and Molecular Biomarkers, 2011

Involvement of a novel GATA4 mutation in atrial septal defects.

Liu XY et al.

International Journal of Molecular Medicine, 2011

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

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

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ et al.

American Journal of Medical Genetics. Part A, 2009

GATA4 sequence variants in patients with congenital heart disease.

Tomita-Mitchell A et al.

Journal of Medical Genetics, 2007

Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease.

Manjegowda DS et al.

Indian Journal of Pharmaceutical Sciences, 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."