Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.A412V
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GATA4

NM_001308093.3:p.A412V

Associated Papers

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Musfee FI et al.

Molecular Genetics & Genomic Medicine, 2020

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

Analysis of Rare Variants in the Alcohol Dependence Candidate Gene GATA4.

Degenhardt F et al.

Alcoholism, Clinical and Experimental Research, 2016

Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation.

Wang J et al.

Molecular Biology Reports, 2012

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

Novel GATA4 mutations in lone atrial fibrillation.

Jiang JQ et al.

International Journal of Molecular Medicine, 2011

A novel GATA4 mutation responsible for congenital ventricular septal defects.

Wang J et al.

International Journal of Molecular Medicine, 2011

Involvement of a novel GATA4 mutation in atrial septal defects.

Liu XY et al.

International Journal of Molecular Medicine, 2011

GATA4 mutations in 357 unrelated patients with congenital heart malformation.

Butler TL et al.

Genetic Testing and Molecular Biomarkers, 2010

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.

Posch MG et al.

American Journal of Medical Genetics. Part A, 2008

GATA4 sequence variants in patients with congenital heart disease.

Tomita-Mitchell A et al.

Journal of Medical Genetics, 2007

Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation.

Posch MG et al.

European Journal of Medical Genetics, 0

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