Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L82P
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PMP22

NM_000304.4:p.L82P

Associated Papers

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Lee AJ et al.

Journal of the Peripheral Nervous System : Jpns, 2025

PMP22-Related Neuropathies: A Systematic Review.

Cesaroni CA et al.

Genes, 2025

41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S2___S3.pdf

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

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

Jung NY et al.

Genes, 2022

The palmitoylation state of PMP22 modulates epithelial cell morphology and migration.

Zoltewicz SJ et al.

Asn Neuro, 2012

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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."