Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.S363*
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DSG2

NM_001943.5:p.S363*

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S6

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype.

Walsh R

Journal of Cardiovascular Translational Research, 2023

Genetic landscape in Russian patients with familial left ventricular noncompaction.

Meshkov AN et al.

Frontiers in Cardiovascular Medicine, 2023

Dilated Cardiomyopathy in Children: Early Detection and Treatment.

Mallavarapu A et al.

Cureus, 2022

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.

Myasnikov R et al.

International Journal of Molecular Sciences, 2021

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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."