Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.R458Q
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DNM2

NM_001005361.3:p.R458Q

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

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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