Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.E331Q
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CYP27A1

NM_000784.4:p.E331Q

Associated Papers

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.

O'Keefe E et al.

European Journal of Neurology, 2025

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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."