Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.L48P
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MPZ

NM_000530.8:p.L48P

Associated Papers

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

Gemignani F et al.

International Journal of Molecular Sciences, 2024

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

Taniguchi T et al.

Clinical Genetics, 2021

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.

Dacci P et al.

Journal of the Peripheral Nervous System : Jpns, 2012

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

Brozková D et al.

Clinical Genetics, 2010

Marked phenotypic variation in a family with a new myelin protein zero mutation.

Szabo A et al.

Neuromuscular Disorders : Nmd, 2005

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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."