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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTMR2

Variant:p.S49_A54delFs

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MTMR2

NM_016156.6:p.S49_A54delFs

hg38:chr11:95888180 GGCAGAAGTTGAAATGGA>G

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."