Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.T355S
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GATA4

NM_001308093.3:p.T355S

Associated Papers

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations

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

Dixit R et al.

Human Mutation, 2018

Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart disease.

Bose D et al.

Mutation Research, 2017

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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."