Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D35Y
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MPZ

NM_000530.8:p.D35Y

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

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.

Cao GH et al.

Frontiers in Neurology, 2024

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

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

Chen B et al.

Frontiers in Neurology, 2021

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

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 epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ

Acta Neurologica Scandinavica. Supplementum, 2012

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.

Braathen GJ et al.

Bmc Research Notes, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].

Reggio A et al.

Acta Neurologica, 1981

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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."