Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E144K
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DSG2

NM_001943.5:p.E144K

Associated Papers

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes.

Hrazderova H et al.

Frontiers in Genetics, 2025

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.

Pham C et al.

Circulation. Genomic and Precision Medicine, 2023

37199186 (PubMed )
Supplement: hcg-16-328-s001.pdf

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients.

Bidina L et al.

Anatolian Journal of Cardiology, 2018

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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."