Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V136E
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MPZ

NM_000530.8:p.V136E

Associated Papers

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Taniguchi T et al.

Clinical Genetics, 2021

33179255 (PubMed )
Supplement: CGE-99-359-s001.docx

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I et al.

Journal of Neurology, 2019

Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.

Agrahari A et al.

Journal of Theoretical Biology, 2015

A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.

Reyes-Marin K et al.

Clinical Neurology and Neurosurgery, 2011

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF et al.

Annals of Neurology, 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."