Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.D377A
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MTM1

NM_000252.3:p.D377A

Associated Papers

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

Laporte J et al.

Journal of Cell Science, 2002

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Blondeau F et al.

Human Molecular Genetics, 2000

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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."