Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E197del1
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DES

NM_001927.4:p.E197del1

Associated Papers

Atlas of Cardiomyopathy Associated DES (Desmin) Mutations: Functional Insights Into the Critical 1B Domain.

Voß S et al.

Circulation. Genomic and Precision Medicine, 2025

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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."