Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.I149fs
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CYP24A1

NM_000782.5:p.I149fs

Associated Papers

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."