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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPZ

Variant:p.R67P

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MPZ

NM_000530.8:p.R67P

hg38:chr1:161307292 C>G

Associated Papers

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

Hisama FM

Archives of Neurology, 2005

15642860 (PubMed )

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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."