Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.R448P
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CYP11B1

NM_000497.4:p.R448P

Associated Papers

Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.

Cavarzere P et al.

Journal of Endocrinological Investigation, 2025

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Lu WL et al.

World Journal of Pediatrics : Wjp, 2024

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review.

Wang D et al.

Journal of Ovarian Research, 2018

A high rate of novel CYP11B1 mutations in Saudi Arabia.

Alzahrani AS et al.

The Journal of Steroid Biochemistry and Molecular Biology, 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."