Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.R138L
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CYP27B1

NM_000785.4:p.R138L

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

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Kaygusuz SB et al.

Calcified Tissue International, 2021

Novel Compound Heterozygous Mutations in the CYP27B1 Gene Lead to Pseudovitamin D-Deficient Rickets.

Koek WN et al.

Calcified Tissue International, 2016

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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."