Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.N131S
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MPZ

NM_000530.8:p.N131S

Associated Papers

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

Taniguchi T et al.

Clinical Genetics, 2021

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 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

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Tan CA et al.

American Journal of Medical Genetics. Part A, 2016

Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

Yonekawa T et al.

Pediatric Neurology, 2013

A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.

Iida M et al.

Neuromuscular Disorders : Nmd, 2012

Novel MPZ mutations and congenital hypomyelinating neuropathy.

McMillan HJ et al.

Neuromuscular Disorders : Nmd, 2010

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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."