Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Y783*
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DSG2

NM_001943.5:p.Y783*

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

41683911 (PubMed )
Supplement: ijms-27-01491-s001.zip › ijms-4086442-supplementary.pdf

Secondary findings in pediatric genomic testing: clinical insights from Turkey.

Kendir-Demirkol Y et al.

European Journal of Pediatrics, 2025

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

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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."