Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E786delFs
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DSG2

NM_001943.5:p.E786delFs

Associated Papers

Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.

Blich M et al.

Pacing and Clinical Electrophysiology : Pace, 2024

Basic and translational mechanisms in inflammatory arrhythmogenic cardiomyopathy.

Engel M et al.

International Journal of Cardiology, 2024

Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.

Fan X et al.

Stem Cell Reviews and Reports, 2023

Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.

Chua CJ et al.

Genes, 2023

Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy.

Noor Ul Ayan H et al.

Clinical Genetics, 2023

Arrhythmogenic cardiomyopathy as a myogenic disease: highlights from cardiomyocytes derived from human induced pluripotent stem cells.

Reisqs JB et al.

Frontiers in Physiology, 2023

What's New in Arrhythmogenic Cardiomyopathies.

Çimen T et al.

Journal of Clinical Medicine, 2022

Altered Electrical, Biomolecular, and Immunologic Phenotypes in a Novel Patient-Derived Stem Cell Model of Desmoglein-2 Mutant ARVC.

Hawthorne RN et al.

Journal of Clinical Medicine, 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."