Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.P437H
Back to variants list

CYP24A1

NM_000782.5:p.P437H

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

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Huang L et al.

Molecular Genetics and Genomics : Mgg, 2022

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

Cappellani D et al.

European Journal of Endocrinology, 2021

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.

Sun Y et al.

Fetal and Pediatric Pathology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."