Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.K138N
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MPZ

NM_000530.8:p.K138N

Associated Papers

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

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV et al.

Human Mutation, 2000

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