Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.P132L
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MPZ

NM_000530.8:p.P132L

Associated Papers

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.

Kozina AA et al.

The Journal of International Medical Research, 2022

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

Comella M et al.

Case Reports in Pediatrics, 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

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H et al.

Journal of Applied Genetics, 2011

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.

Brozková D et al.

Clinical Genetics, 2010

Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

Sorour E et al.

Human Mutation, 1998

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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."