Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.P433T
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DES

NM_001927.4:p.P433T

Associated Papers

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

Genetic Insights into Primary Restrictive Cardiomyopathy.

Brodehl A et al.

Journal of Clinical Medicine, 2022

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

Brodehl A et al.

Biophysical Reviews, 2018

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

JurcuŢ RO et al.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 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."