Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E114G
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DES

NM_001927.4:p.E114G

Associated Papers

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.

Brodehl A et al.

Cells, 2022

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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."