Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.R266C
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GATA4

NM_001308093.3:p.R266C

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

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

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

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.

Reamon-Buettner SM et al.

Human Molecular Genetics, 2008

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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."