Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.W133R
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CYP27A1

NM_000784.4:p.W133R

Associated Papers

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.

Guoliang Y et al.

Frontiers in Neurology, 2025

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.

Mou Y et al.

Orphanet Journal of Rare Diseases, 2023

Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition.

Dell'Aversano Orabona G et al.

Bjr Case Reports, 2020

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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."