Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB1
Variant:p.L474F
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PLXNB1

NM_001130082.3:p.L474F

Associated Papers

A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Takasone K et al.

Internal Medicine (tokyo, Japan), 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."