Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.I30T
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MPZ

NM_000530.8:p.I30T

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

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 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

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

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.

Karadima G et al.

Clinical Genetics, 2011

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Lee YC et al.

Journal of Neurology, 2010

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

Floroskufi P et al.

Muscle & Nerve, 2007

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

Nicholson GA et al.

Neurology, 1998

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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."