Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R227C
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DES

NM_001927.4:p.R227C

Associated Papers

Dilated cardiomyopathy: from genes and molecules to potential treatments.

Wang X et al.

Molecular and Cellular Biochemistry, 2025

Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.

Huang YS et al.

The Journal of International Medical Research, 2021

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

Brodehl A et al.

Biophysical Reviews, 2018

Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.

Yu R et al.

Cardiology, 0

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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."