Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.G73W
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CYP27B1

NM_000785.4:p.G73W

Associated Papers

Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.

Yi C et al.

Experimental and Therapeutic Medicine, 2022

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

Cytochromes p450: roles in diseases.

Pikuleva IA et al.

The Journal of Biological Chemistry, 2013

Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.

Cui N et al.

Bone, 2012

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.

Dhull RS et al.

Jornal Brasileiro De Nefrologia, 0

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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."