Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.T48P
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VMA21

NM_001017980.4:p.T48P

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

Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.

Wang F et al.

Autophagy, 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."