Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.P394T
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GATA4

NM_002052.5:p.P394T

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

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

van den Bergen JA et al.

Molecular Genetics & Genomic Medicine, 2020

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

Dixit R et al.

Human Mutation, 2018

c.620C>T mutation in GATA4 is associated with congenital heart disease in South India.

Mattapally S et al.

Bmc Medical Genetics, 2015

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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."