Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.R405G
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CYP27A1

NM_000784.4:p.R405G

Associated Papers

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

Pilo-de-la-Fuente B et al.

European Journal of Neurology, 2011

[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis].

Pilo de la Fuente B et al.

Neurologia (barcelona, Spain), 2011

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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."