Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.H125fs
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CYP11B1

NM_000497.4:p.H125fs

Associated Papers

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

İsakoca M et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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

Alsanea MN et al.

Cureus, 2022

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.

Yildiz M et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

Zacharieva S et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2019

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Kandemir N et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

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

Bulsari K et al.

Endocrine, 2017

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.

Polat S et al.

European Journal of Endocrinology, 2014

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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."