Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.C109*
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PMP22

NM_000304.4:p.C109*

Associated Papers

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Resko P et al.

General Physiology and Biophysics, 2011

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.

Abe KT et al.

Neuromuscular Disorders : Nmd, 2004

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.

Kochański A et al.

Acta Biochimica Polonica, 2004

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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."