Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S140C
Back to variants list

MPZ

NM_000530.8:p.S140C

Associated Papers

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

Lei L et al.

European Journal 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

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.

Chen B et al.

Frontiers in 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

Two novel MPZ mutations in Chinese CMT patients.

Liu L et al.

Journal of the Peripheral Nervous System : Jpns, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."