Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.R162*
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MTMR2

NM_016156.6:p.R162*

Associated Papers

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.

Halperin D et al.

Neurogenetics, 2020

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

Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.

Zambon AA et al.

Neuromuscular Disorders : Nmd, 2017

Genetic Spectrum of Inherited Neuropathies in India.

Sharma S et al.

Annals of Indian Academy of Neurology, 0

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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."