Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.A475fs
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CYP24A1

NM_000782.5:p.A475fs

Associated Papers

Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.

Jones G et al.

Journal of Endocrinological Investigation, 2024

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

Cappellani D et al.

European Journal of Endocrinology, 2021

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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."