Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.P389L
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CYP24A1

NM_000782.5:p.P389L

Associated Papers

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

Eltan M et al.

Clinical Endocrinology, 2025

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

Cappellani D et al.

European Journal of Endocrinology, 2021

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.

De Paolis E et al.

Clinical Chemistry and Laboratory Medicine, 2019

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

Gigante M et al.

Nephron, 2016

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

Molin A et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."