Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.P132T
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MPZ

NM_000530.8:p.P132T

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

33179255 (PubMed )
Supplement: CGE-99-359-s001.docx

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

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.

Brozková D et al.

Clinical Genetics, 2010

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