Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.A169V
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CYP27A1

NM_000784.4:p.A169V

Associated Papers

Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios.

Poku-Adusei E et al.

Journal of Personalized Medicine, 2025

41149818 (PubMed )
Supplement: jpm-15-00456-s001.zip › jpm-3794577-supplementary.pdf

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Pramparo T et al.

Orphanet Journal of Rare Diseases, 2023

36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated

Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism.

Dias V et al.

Journal of Pharmacy & Bioallied Sciences, 2011

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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."