Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.F450S
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CYP24A1

NM_000782.5:p.F450S

Associated Papers

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

Eltan M et al.

Clinical Endocrinology, 2025

Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.

Wang Q et al.

Orphanet Journal of Rare Diseases, 2024

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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."