Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.G134R
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CYP11B1

NM_000497.4:p.G134R

Associated Papers

Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center.

Sheya A et al.

Endocrine Regulations, 2025

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.

Tang S et al.

Endocrine, 2024

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

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.

Zhou Q et al.

Frontiers in Pediatrics, 2020

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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."