Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.R159C
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PMP22

NM_000304.4:p.R159C

Associated Papers

Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Ando M et al.

Annals of Clinical and Translational Neurology, 2026

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

Ward KS et al.

Brain : a Journal of Neurology, 2025

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.

Ward KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Palu E et al.

Neurogenetics, 2023

Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.

Nguyen-Le TH et al.

Brain and Behavior, 2022

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Towards a functional pathology of hereditary neuropathies.

Weis J et al.

Acta Neuropathologica, 2017

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

A comment on novel mutation in the PMP22 gene causing an axonal neuropathy.

Wiwanitkit V

Muscle & Nerve, 2011

Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.

Gess B et al.

Muscle & Nerve, 2011

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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."