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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTM1

Variant:p.V49_P54delFs

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MTM1

NM_000252.3:p.V49_P54delFs

hg38:chrX:150598599 AGTTATTTACATATGTCC>A

Associated Papers

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.

Raess MA et al.

Human Molecular Genetics, 2017

28934386 (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."