Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.F372S
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DNM2

NM_001005361.3:p.F372S

Associated Papers

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

Rimoldi M et al.

Frontiers in Genetics, 2025

A mitofusin 2/HIF1α axis sets a maturation checkpoint in regenerating skeletal muscle.

Wang X et al.

The Journal of Clinical Investigation, 2022

36125902 (PubMed )
Supplement: jci-132-161638-s064.xlsx › Sheet1

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.

Hayes LH et al.

Neurology. Genetics, 2022

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