Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.T67P
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GATA5

NM_080473.5:p.T67P

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

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

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

Kassab K et al.

Molecular Genetics & Genomic Medicine, 2016

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

Foffa I et al.

Bmc Medical Genetics, 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."