Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.V284_L285delFs
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PNPLA6

NM_001166114.2:p.V284_L285delFs

Associated Papers

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.

Du K et al.

Cerebellum (london, England), 2026

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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."