Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L69P
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DES

NM_001927.4:p.L69P

Associated Papers

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Sepp R et al.

Diagnostics (basel, Switzerland), 2022

35626289 (PubMed )
Supplement: diagnostics-12-01132-s001.zip › diagnostics-1699952-supplementary.pdf

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.

Kulikova O et al.

Genes, 2021

Desmin-related myopathy characterized by non-compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection.

Tamiya R et al.

Esc Heart Failure, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 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."