Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S54fs
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MPZ

NM_000530.8:p.S54fs

Associated Papers

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

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.

Chavada G et al.

Journal of Clinical Neuromuscular Disease, 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."