Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.F95L
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MPZ

NM_000530.8:p.F95L

Associated Papers

Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.

Hauw F et al.

European Journal of Neurology, 2021

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I et al.

Journal of Neurology, 2019

Late-onset CMT phenotype caused by a novel mutation in the MPZ gene.

O'Connor G et al.

European Journal of Neurology, 2012

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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."