Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.H475R
Back to variants list

GATA6

NM_005257.6:p.H475R

Associated Papers

A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis.

Khazamipour A et al.

Scientific Reports, 2022

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

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

Škorić-Milosavljević D et al.

American Journal of Medical Genetics. Part A, 2019

GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.

Xu L et al.

International Journal of Molecular Medicine, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."