Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.W583*
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MTMR2

NM_016156.6:p.W583*

Associated Papers

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.

Wang H et al.

Frontiers in Neuroscience, 2019

Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.

Scott P et al.

Oman Medical Journal, 2016

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

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.

Nouioua S et al.

Neuromuscular Disorders : Nmd, 2011

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Verny C et al.

Neurology, 2004

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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."