Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.E60K
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PMP22

NM_000304.4:p.E60K

Associated Papers

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Chrysostomaki M et al.

Genes, 2026

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

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

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.

Kawarai T et al.

Neuromuscular Disorders : Nmd, 2019

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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."