Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E457V
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DES

NM_001927.4:p.E457V

Associated Papers

Restrictive cardiomyopathy with unique fibrosis pattern and familial atrial arrythmia associated with DES mutation.

Tuoliken S et al.

European Heart Journal, 2025

Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.

Asatryan B et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Desmin variants: Trigger for cardiac arrhythmias?

Su W et al.

Frontiers in Cell and Developmental Biology, 2022

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

Brodehl A et al.

Biophysical Reviews, 2018

Desmin in muscle and associated diseases: beyond the structural function.

Hnia K et al.

Cell and Tissue Research, 2015

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

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

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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."