Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.G398S
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CYP27B1

NM_000785.4:p.G398S

Associated Papers

Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.

Bin-Abbas B et al.

Journal of the Endocrine Society, 2026

Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.

Jarrar Y et al.

Journal of Personalized Medicine, 2025

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.

Lin Y et al.

Frontiers in Pediatrics, 2022

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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."