Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.R395insFs
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CYP27A1

NM_000784.4:p.R395insFs

Associated Papers

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Hanson J et al.

Neurology International, 2025

40863986 (PubMed )
Supplement: neurolint-17-00117-s001.zip › neurolint-3738340-supplementary.xlsx › Sheet1

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.

Jiang J et al.

Frontiers in Genetics, 2020

Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia.

Giraldo-Chica M et al.

Biomedica : Revista Del Instituto Nacional De Salud, 0

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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."