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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPZ

Variant:p.P105L

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MPZ

NM_000530.8:p.P105L

hg38:chr1:161306842 G>A

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

Novel Myelin Protein Zero Mutation in 3 Generations of Vermonters With Demyelinating Charcot-Marie-Tooth Disease.

Lorance DK et al.

Journal of Clinical Neuromuscular Disease, 2018

29465609 (PubMed )

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