Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.R132H
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DSC2

NM_024422.6:p.R132H

Associated Papers

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.

Pohl GM et al.

Frontiers in Cardiovascular Medicine, 2023

Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Tabansky I et al.

Frontiers in Immunology, 2022

36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1

Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective.

Chen K et al.

Clinical Cardiology, 2018

Remodelling of myocardial intercalated disc protein connexin 43 causes increased susceptibility to malignant arrhythmias in ARVC/D patients.

Chen X et al.

Forensic Science International, 2017

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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."