Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.R448insFs
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CYP27A1

NM_000784.4:p.R448insFs

Associated Papers

Cerebrotendinous xanthomatosis: a literature review and case study.

Matta A et al.

Frontiers in Cardiovascular Medicine, 2024

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

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Sasamura A et al.

Internal Medicine (tokyo, Japan), 2018

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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."