Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.E360G
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GATA4

NM_002052.5:p.E360G

Associated Papers

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Zhou Y et al.

Science Advances, 2025

41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s1.xlsx › Table_S1

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

Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.

Soheili F et al.

Congenital Heart Disease, 2018

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E et al.

Plos One, 2013

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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."