Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.M1I
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DES

NM_001927.4:p.M1I

Associated Papers

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

Huang YS et al.

The Journal of International Medical Research, 2021

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.

Yang J et al.

Frontiers in Physiology, 2021

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Prevalence of desmin mutations in dilated cardiomyopathy.

Taylor MR et al.

Circulation, 2007

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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."