Varaico: Literature-Extracted Genetic Variants

Gene:GATAD1
Variant:p.S102P
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GATAD1

NM_021167.5:p.S102P

Associated Papers

GATAD1 is involved in sphingosylphosphorylcholine-attenuated myocardial ischemia-reperfusion injury by modulating myocardial fatty acid oxidation and glucose oxidation.

Cai Y et al.

Free Radical Biology & Medicine, 2025

Loss of GATAD1 in cardiomyocyte does not cause cardiomyopathy in mice.

Pang J et al.

Journal of Molecular Histology, 2024

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Pathogenic mutations of human phosphorylation sites affect protein-protein interactions.

Rrustemi T et al.

Nature Communications, 2024

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

Modeling GATAD1-Associated Dilated Cardiomyopathy in Adult Zebrafish.

Yang J et al.

Journal of Cardiovascular Development and Disease, 2016

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.

Theis JL et al.

Circulation. Cardiovascular Genetics, 2011

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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."