Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.N405N
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CYP27B1

NM_000785.4:p.N405N

Associated Papers

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Kaygusuz SB et al.

Calcified Tissue International, 2021

Single Nucleotide Polymorphisms in 25-Hydroxyvitamin D3 1-Alpha-Hydroxylase (CYP27B1) Gene: The Risk of Malignant Tumors and Other Chronic Diseases.

Latacz M et al.

Nutrients, 2020

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Zou M et al.

Frontiers in Genetics, 2020

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

Demir K et al.

Plos One, 2015

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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."