Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.T65A
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MPZ

NM_000530.8:p.T65A

Associated Papers

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation.

Akdal G et al.

Neurology. Clinical Practice, 2021

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

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

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Nadol JB et al.

Audiology & Neuro-otology, 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

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

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Baets J et al.

Brain : a Journal of Neurology, 2011

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H et al.

Journal of Applied Genetics, 2011

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A et al.

Neuromuscular Disorders : Nmd, 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."