Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.R833C
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DSC2

NM_024422.6:p.R833C

Associated Papers

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.

Di Lorenzo F et al.

International Journal of Molecular Sciences, 2023

36768812 (PubMed )
Supplement: ijms-24-02490-s001.zip › ijms-2189574-supplementary.pdf

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Lippi M et al.

Biomolecules, 2022

36008935 (PubMed )
Supplement: biomolecules-12-01043-s001.zip › biomolecules-1806599-supplementary-proof_done-update.pdf

Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.

Li M et al.

Journal of Translational Medicine, 2021

33941202 (PubMed )
Supplement: 12967_2021_2832_MOESM4_ESM.xlsx › Sheet1

Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

Lin Y et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Fang X et al.

Journal of Cellular and Molecular Medicine, 2020

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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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."