Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.R202Q
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GATA5

NM_080473.5:p.R202Q

Associated Papers

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

Variants in cardiac GATA genes associated with bicuspid aortic valve.

Alonso-Montes C et al.

European Journal of Clinical Investigation, 2018

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

Hempel M et al.

Human Genetics, 2017

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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."