Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.S46del1
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GATA4

NM_001308093.3:p.S46del1

Associated Papers

A novel GATA4 mutation responsible for congenital ventricular septal defects.

Wang J et al.

International Journal of Molecular Medicine, 2011

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.

Guida V et al.

Disease Markers, 2010

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.

Hamanoue H et al.

Cardiology in the Young, 2009

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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."