Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.H12P
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PMP22

NM_000304.4:p.H12P

Associated Papers

PMP22-Related Neuropathies: A Systematic Review.

Cesaroni CA et al.

Genes, 2025

41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S1.xlsx › DSS

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

40488457 (PubMed )
Supplement: awaf219_supplementary_data.zip › brain-2025-00795-File012.pdf

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

Palu E et al.

Neurogenetics, 2023

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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."