Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.Y579fs
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MTMR2

NM_016156.6:p.Y579fs

Associated Papers

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.

Luigetti M et al.

Journal of the Peripheral Nervous System : Jpns, 2013

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS et al.

Plos Genetics, 2012

Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.

Bolis A et al.

Molecular Neurobiology, 2007

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.

Previtali SC et al.

Human Molecular Genetics, 2003

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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."