Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.D129N
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CYP27A1

NM_000784.4:p.D129N

Associated Papers

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Katsanis N et al.

Human Genomics, 2025

41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx

Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.

Jarrar Y et al.

Journal of Personalized Medicine, 2025

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