Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.P442insFs
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CYP27B1

NM_000785.4:p.P442insFs

Associated Papers

A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.

Özcabı B et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.

Demir K et al.

Plos One, 2015

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Durmaz E et al.

Clinical Endocrinology, 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."