Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.S352*
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CYP27A1

NM_000784.4:p.S352*

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

Erratum to cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.

Unknown Author

Annals of Translational Medicine, 2021

Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.

Zhang S et al.

Annals of Translational Medicine, 2020

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