Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R386H
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DES

NM_001927.4:p.R386H

Associated Papers

Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.

Kruijt N et al.

Genes, 2025

Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.

Geryk M et al.

Journal of Cellular Physiology, 2024

Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.

Giri P et al.

Heart Failure Reviews, 2022

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.

Zhao Y et al.

International Journal of Molecular Medicine, 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."