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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27A1

Variant:p.N421_T422Splc

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CYP27A1

NM_000784.4:p.N421_T422Splc

hg38:chr2:218814462 A>T

Associated Papers

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.

Guoliang Y et al.

Frontiers in Neurology, 2025

40496134 (PubMed )

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.

Köroğlu M et al.

Orphanet Journal of Rare Diseases, 2024

38336741 (PubMed )

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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."