Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.R252Splc
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VDR

NM_000376.3:p.R252Splc

Associated Papers

Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.

Abalı S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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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."