Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E245del1
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DES

NM_001927.4:p.E245del1

Associated Papers

Desmin mutations in cardiomyocytes increase susceptibility to coxsackievirus B3 infection by impairing antiviral IFN-β response and upregulating viral receptors expression.

Callon D et al.

Stem Cell Research & Therapy, 2026

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Silva AMS et al.

Journal of Neuropathology and Experimental Neurology, 2022

Desmin variants: Trigger for cardiac arrhythmias?

Su W et al.

Frontiers in Cell and Developmental Biology, 2022

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3.

Brodehl A et al.

Biomedicines, 2021

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

Brodehl A et al.

Biophysical Reviews, 2018

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Hong D et al.

Neuropathology and Applied Neurobiology, 2011

[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].

Hong DJ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2010

Intermediate filament diseases: desminopathy.

Goldfarb LG et al.

Advances in Experimental Medicine and Biology, 2008

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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."