Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.Y400D
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CYP27B1

NM_000785.4:p.Y400D

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
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