Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.K218T
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GATA5

NM_080473.5:p.K218T

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

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

Whitcomb J et al.

Iubmb Life, 2020

Somatic GATA5 mutations in sporadic tetralogy of Fallot.

Huang RT et al.

International Journal of Molecular Medicine, 2014

Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation.

Yang YQ et al.

International Journal of Cardiology, 2012

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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."