Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.G123D
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MPZ

NM_000530.8:p.G123D

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

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ

Acta Neurologica Scandinavica. Supplementum, 2012

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.

Braathen GJ et al.

Bmc Research Notes, 2010

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