Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.Q426*
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MTMR2

NM_016156.6:p.Q426*

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

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

Berger P et al.

Human Molecular Genetics, 2002

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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."