Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S111C
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MPZ

NM_000530.8:p.S111C

Associated Papers

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.

Laurini C et al.

Neurology. Genetics, 2025

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

Taniguchi T et al.

Clinical Genetics, 2021

In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.

Ghanavatinejad F et al.

Cell Biology International, 2020

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

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.

Bai Y et al.

Annals of Clinical and Translational Neurology, 2018

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O et al.

Brain : a Journal of Neurology, 2015

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Manganelli F et al.

Journal of the Peripheral Nervous System : Jpns, 2014

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

Mandich P et al.

European Journal of Human Genetics : Ejhg, 2009

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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."