Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.T219I
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DES

NM_001927.4:p.T219I

Associated Papers

Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.

Abdel Aleem AF et al.

Pediatric Neurology, 2026

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.

Peddareddygari LR et al.

Case Reports in Neurology, 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."