Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.R379Splc
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CYP27B1

NM_000785.4:p.R379Splc

Associated Papers

Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.

Tebben PJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."