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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMP22

Variant:p.V17_L18del0

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PMP22

NM_000304.4:p.V17_L18del0

hg38:chr17:15260673 GCAGCAC>G

Associated Papers

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

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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."