Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Q86*
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MPZ

NM_000530.8:p.Q86*

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

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F et al.

Brain and Behavior, 2016

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

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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."