Varaico: Literature-Extracted Genetic Variants

Gene:CYP2R1
Variant:p.G42_L46delins
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CYP2R1

NM_024514.5:p.G42_L46delins

Associated Papers

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

Menon JC et al.

Jcem Case Reports, 2024

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations.

Bakhamis S et al.

Endocrine Connections, 2021

Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b.

Ozden A et al.

Endocrine, 2021

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Molin A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017

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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."