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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTM1

Variant:p.V204F

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MTM1

NM_000252.3:p.V204F

hg38:chrX:150641350 G>T

Associated Papers

A Novel Mutation Associated with Severe Centronuclear Myopathy in a Neonate.

Gangadaran P et al.

Neurology India, 2024

39691018 (PubMed )

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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."