Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.P392fs
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CYP24A1

NM_000782.5:p.P392fs

Associated Papers

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.

Leszczyńska D et al.

Frontiers in Endocrinology, 2024

Severe Hypercalcemia Due to Primary Hyperparathyroidism and Heterozygous Pathogenic Variant of CYP24A1.

Liu J et al.

Jcem Case Reports, 2023

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