Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.I30M
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MPZ

NM_000530.8:p.I30M

Associated Papers

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

Laurini C et al.

Neurology. Genetics, 2025

Computational prioritization of deleterious human myelin protein zero gene mutations reveals structural disruption and potential myelin dysfunction through dynamic simulations and stability analysis.

Alhassan HH et al.

Journal of Biomolecular Structure & Dynamics, 2025

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

Taniguchi T et al.

Clinical Genetics, 2021

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.

Chen B et al.

Frontiers in Neurology, 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

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF et al.

Journal of Neurochemistry, 2017

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

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G et al.

European Journal of Human Genetics : Ejhg, 2009

New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.

Floroskufi P et al.

Muscle & Nerve, 2007

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

Yoshihara T et al.

Human Mutation, 2000

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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."