Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.Q86*
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PMP22

NM_000304.4:p.Q86*

Associated Papers

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Jung NY et al.

Genes, 2022

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational Neurology, 2019

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.

Liao YC et al.

Scientific Reports, 2017

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."