Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.T252P
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GATA5

NM_080473.5:p.T252P

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

Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot.

Jin JY et al.

Qjm : Monthly Journal of the Association of Physicians, 2022

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

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

GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

Kassab K et al.

Molecular Genetics & Genomic Medicine, 2016

GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.

Shi LM et al.

International Journal of Molecular Medicine, 2014

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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."