Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.H81Q
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MPZ

NM_000530.8:p.H81Q

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

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

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.

Choi BO et al.

International Journal of Molecular Medicine, 2011

[Charcot-Marie-Tooth disease with early onset. Presentation of a family].

Zellweger H et al.

La Pediatria, 1971

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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."