Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Y68*
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MPZ

NM_000530.8:p.Y68*

Associated Papers

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Bertini A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2024

Loss of function MPZ mutation causes milder CMT1B neuropathy.

Howard P et al.

Journal of the Peripheral Nervous System : Jpns, 2021

CIDP, CMT1B, or CMT1B plus CIDP?

Cardellini D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

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
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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."