Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.H108R
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CYP24A1

NM_000782.5:p.H108R

Associated Papers

Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.

Eltan M et al.

Clinical Endocrinology, 2025

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

Idiopathic infantile hypercalcaemia (IIH) resulting from a loss-of-function mutation in the CYP24A1 gene in a young high-performance athlete: A case report with a literature review of adult presentations.

Rodríguez AJ et al.

Clinical Endocrinology, 2023

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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."