Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.K284fs
Back to variants list

CYP27A1

NM_000784.4:p.K284fs

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

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.

Gelzo M et al.

Acta Neurologica Belgica, 2021

[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].

Delstanche S et al.

Revue Medicale De Liege, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."