Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.I281_T282delFs
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MTMR2

NM_016156.6:p.I281_T282delFs

Associated Papers

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.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

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

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

Parman Y et al.

Brain : a Journal of 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."