Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.G55Splc
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VMA21

NM_001017980.4:p.G55Splc

Associated Papers

Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.

Cocchiararo I et al.

Journal of Neuromuscular Diseases, 2025

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Pegat A et al.

Genes, 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."