Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R415Q
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DES

NM_001927.4:p.R415Q

Associated Papers

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.

Bermudez-Jimenez FJ et al.

Jacc. Clinical Electrophysiology, 2024

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Genetic Insights into Primary Restrictive Cardiomyopathy.

Brodehl A et al.

Journal of Clinical Medicine, 2022

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units.

Ripoll-Vera T et al.

Revista Espanola De Cardiologia (english Ed.), 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."