Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.W124delFs
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PMP22

NM_000304.4:p.W124delFs

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 › HNPP

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Benquey T et al.

Journal of Neuromuscular Diseases, 2020

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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."