Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.E360delFs
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GATA4

NM_001308093.3:p.E360delFs

Associated Papers

Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis.

Fabiani M et al.

International Journal of Molecular Sciences, 2025

Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.

Cervantes-Salazar JL et al.

Biology, 2024

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

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

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

Dixit R et al.

Human Mutation, 2018

Mutation spectrum of GATA4 associated with congenital atrial septal defects.

Yang YQ et al.

Archives of Medical Science : Ams, 2013

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

Spectrum of heart disease associated with murine and human GATA4 mutation.

Rajagopal SK et al.

Journal of Molecular and Cellular Cardiology, 2007

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Hirayama-Yamada K et al.

American Journal of Medical Genetics. Part A, 2005

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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."