Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.R453H
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CYP27B1

NM_000785.4:p.R453H

Associated Papers

Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.

Wang LK et al.

American Journal of Medical Genetics. Part A, 2024

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Méaux MN et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

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

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

Fibroblast growth factor-23 and renin-angiotensin system levels in vitamin-D-dependent rickets type I.

Cuervo C et al.

Pediatric Nephrology (berlin, Germany), 2016

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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."