Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.L199V
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GATA5

NM_080473.5:p.L199V

Associated Papers

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.

Zodanu GKE et al.

International Journal of Molecular Sciences, 2025

From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.

Whitcomb J et al.

Iubmb Life, 2020

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

Somatic GATA5 mutations in sporadic tetralogy of Fallot.

Huang RT et al.

International Journal of Molecular Medicine, 2014

GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.

Wei D et al.

Pediatric Cardiology, 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."