Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.F64del1
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MPZ

NM_000530.8:p.F64del1

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

Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

Sevilla T et al.

Journal of the Peripheral Nervous System : Jpns, 2011

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

Leal A et al.

Neurogenetics, 2003

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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."