Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.Y138F
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GATA5

NM_080473.5:p.Y138F

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

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

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

Whitcomb J et al.

Iubmb Life, 2020

Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation.

Gu JY et al.

Clinics (sao Paulo, Brazil), 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."