Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S63F
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MPZ

NM_000530.8:p.S63F

Associated Papers

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

Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.

Ptak CP et al.

Brain : a Journal of Neurology, 2023

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

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational 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

Cytochrome P450 2D6 and Parkinson's Disease: Polymorphism, Metabolic Role, Risk and Protection.

Ur Rasheed MS et al.

Neurochemical Research, 2017

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

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Lee YC et al.

Journal of Neurology, 2010

Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.

Vallat JM et al.

Acta Neuropathologica, 2007

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.

Lee YC et al.

Journal of Neurology, 2005

Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.

Lee YC et al.

Journal of the Neurological Sciences, 2004

Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.

Matsuyama W et al.

Acta Neuropathologica, 2002

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