Varaico: Literature-Extracted Genetic Variants

Gene:CYP2R1
Variant:p.L79I
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CYP2R1

NM_024514.5:p.L79I

Associated Papers

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

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_2

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2d
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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."