Varaico: Literature-Extracted Genetic Variants

Gene:CYP2R1
Variant:p.A17insFs
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CYP2R1

NM_024514.5:p.A17insFs

Associated Papers

Novel Mutation in CYP2R1 Causing Vitamin D-Dependent Rickets Type 1b.

Menon JC et al.

Jcem Case Reports, 2024

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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."