Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D118N
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MPZ

NM_000530.8:p.D118N

Associated Papers

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

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.

McCulloch MK et al.

International Journal of Molecular Sciences, 2024

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

A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.

Veneri FA et al.

Human Molecular Genetics, 2022

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

Taniguchi T et al.

Clinical Genetics, 2021

33179255 (PubMed )
Supplement: CGE-99-359-s001.docx

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, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Choi BO et al.

Human Mutation, 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."