Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D121N
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MPZ

NM_000530.8:p.D121N

Associated Papers

Late-Onset, Autosomal Dominant, Axonal, Sensorimotor Neuropathy Due to the New Variant c.1A_G in Myelin Protein Zero (MPZ): A Case Report.

Finsterer J

Cureus, 2025

Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.

Hauw F et al.

European Journal of Neurology, 2021

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Taniguchi T et al.

Clinical Genetics, 2021

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.

Chen B et al.

Frontiers in Neurology, 2021

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Nadol JB et al.

Audiology & Neuro-otology, 2018

A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.

Duan X et al.

Frontiers in Aging Neuroscience, 2016

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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."