Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.R120H
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CYP24A1

NM_000782.5:p.R120H

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

Discovery of Pathogenic Variants Associated with Idiopathic Recurrent Pregnancy Loss Using Whole-Exome Sequencing.

Lee JY et al.

International Journal of Molecular Sciences, 2024

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Nesterova G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

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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."