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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMP22

Variant:p.S55L

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PMP22

NM_000304.4:p.S55L

hg38:chr17:15259108 G>A

Associated Papers

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

33314704 (PubMed )

Supplement: ACN3-8-213-s001.docx

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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."