Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.E60Splc
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PMP22

NM_000304.4:p.E60Splc

Associated Papers

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

Palu E et al.

Neurogenetics, 2023

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

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Pou Serradell A et al.

Revue Neurologique, 2002

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Meuleman J et al.

Neuromuscular Disorders : Nmd, 2001

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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."