Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.R111insFs
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MTMR2

NM_016156.6:p.R111insFs

Associated Papers

Expression of genetic peripheral neuropathies in South African children.

Raga SV et al.

Neuromuscular Disorders : Nmd, 2026

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

Yalcouyé A et al.

Journal of the Peripheral Nervous System : Jpns, 2022

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1

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

Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

Tazir 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

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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."