Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L108P
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PMP22

NM_000304.4:p.L108P

Associated Papers

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

Jung NY et al.

Genes, 2022

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

Schlebach JP et al.

The Journal of Membrane Biology, 2015

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF et al.

Annals of Neurology, 2002

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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."