Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.L474fs
Back to variants list

CYP24A1

NM_000782.5:p.L474fs

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

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

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."