Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.N480S
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ACTN2

NM_001103.4:p.N480S

Associated Papers

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Donkervoort S et al.

Annals of Clinical and Translational Neurology, 2024

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

A recurrent homozygous ACTN2 variant associated with core myopathy.

Inoue M et al.

Acta Neuropathologica, 2021

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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."