Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.C42R
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PMP22

NM_000304.4:p.C42R

Associated Papers

Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.

Chen L et al.

Journal of Neurology, 2024

39666198 (PubMed )
Supplement: 415_2024_12839_MOESM1_ESM.xlsx › Sheet1

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Benquey T et al.

Journal of Neuromuscular Diseases, 2020

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

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P et al.

Orphanet Journal of Rare Diseases, 2016

Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.

Baaj Y et al.

Research Letters in Biochemistry, 2009

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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."