Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.Q120*
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GATA6

NM_005257.6:p.Q120*

Associated Papers

Comprehensive in silico analysis of single nucleotide polymorphism and molecular dynamics simulation of human GATA6 protein in ventricular septal defect.

Hidayat T et al.

Narra J, 2024

Functional characterization of GATA6 genetic variants associated with mild congenital heart defects.

Wu H et al.

Biochemical and Biophysical Research Communications, 2023

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.

Williams SG et al.

Journal of Human Genetics, 2022

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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."