Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.V520G
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DNM2

NM_001005361.3:p.V520G

Associated Papers

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Rimoldi M et al.

Frontiers in Genetics, 2025

40259930 (PubMed )
Supplement: DataSheet1.pdf

Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.

Hedde PN et al.

Biochemistry, 2024

[The dynamin-2-gene related centronuclear myopathy].

Bitoun M

Medecine Sciences : M/s, 2023

Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.

Fujise K et al.

Human Mutation, 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."