Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.G478G
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CYP27A1

NM_000784.4:p.G478G

Associated Papers

Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

Jiao H et al.

Journal of Internal Medicine, 2018

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

Hansson M et al.

Journal of Internal Medicine, 2007

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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."