Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.P70L
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MPZ

NM_000530.8:p.P70L

Associated Papers

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Fridman V et al.

Annals of Neurology, 2023

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 in Cyprus: epidemiological, clinical and genetic characteristics.

Nicolaou P et al.

Neuroepidemiology, 2010

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Laurà M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2007

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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."