Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.M130I
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CYP27A1

NM_000784.4:p.M130I

Associated Papers

Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.

Tama Viteri FA et al.

The International Journal of Neuroscience, 2025

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