Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.R279C
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DSC2

NM_024422.6:p.R279C

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.

Lota AS et al.

Circulation, 2022

36154167 (PubMed )
Supplement: cir-146-1123-s001.pdf

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Chan W et al.

Eclinicalmedicine, 2022

35747179 (PubMed )
Supplement: mmc1.pdf

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy.

Li S et al.

Molecular Genetics & Genomic Medicine, 2019

Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.

Li S et al.

Journal of the American Heart Association, 2018

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.

Alcalde M et al.

International Journal of Legal Medicine, 2015

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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."