Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.M334K
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CYP27A1

NM_000784.4:p.M334K

Associated Papers

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.

Chun MY et al.

Frontiers in Neurology, 2023

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