Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.L474delFs
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CYP24A1

NM_000782.5:p.L474delFs

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

Cappellani D et al.

European Journal of Endocrinology, 2021

CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.

Hawkes CP et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."