Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.R138C
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CYP11B1

NM_000497.4:p.R138C

Associated Papers

Spontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review.

Machineni P et al.

Cureus, 2025

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency

İsakoca M et al.

Journal of Clinical Research in Pediatric Endocrinology, 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

Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.

Sun B et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review.

Alsanea MN et al.

Cureus, 2022

Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.

Ravichandran L et al.

European Journal of Medical Genetics, 2021

Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.

Karlekar MP et al.

Clinical Endocrinology, 2021

2017 NSAUA Abstracts.

Unknown Author

Canadian Urological Association Journal = Journal De L'association Des Urologues Du Canada, 2017

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Bulsari K et al.

Endocrine, 2017

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

Mooij CF et al.

Clinical Endocrinology, 2015

A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.

Reisch N et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Hypertension- One ize does not fit all.

Subashri M et al.

Indian Journal of Nephrology, 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."