Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E353_D354ins0
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DES

NM_001927.4:p.E353_D354ins0

Associated Papers

Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.

Castañeda SL et al.

Journal of Medical Genetics, 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."