Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.P382A
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CYP27B1

NM_000785.4:p.P382A

Associated Papers

Hereditary disorders of vitamin-D metabolism and its receptor.

Lainis V et al.

Hormones (athens, Greece), 2025

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

A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene.

Giannakopoulos A et al.

Hormone Research in Paediatrics, 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."