Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.E56K
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MPZ

NM_000530.8:p.E56K

Associated Papers

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.

Laurini C et al.

Neurology. Genetics, 2025

Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.

Cronin SJF et al.

Biorxiv : the Preprint Server for Biology, 2023

37214873 (PubMed )
Supplement: media-1.pdf

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

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Gentile L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

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

Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.

Kochański A

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2004

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.

Kochanski A et al.

Journal of the Peripheral Nervous System : Jpns, 2004

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

Nowakowski A et al.

Acta Biochimica Polonica, 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."