Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.N394fs
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CYP11B1

NM_000497.4:p.N394fs

Associated Papers

From Severe Virilization to Precocious Puberty in a 46,XX Patient: Therapeutic Challenges in a Case of 11β-Hydroxylase Deficiency.

Hamaichat M et al.

Cureus, 2025

Rare forms of congenital adrenal hyperplasia.

Gurpinar Tosun B et al.

Clinical Endocrinology, 2024

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

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

Zhou Q et al.

Frontiers in Pediatrics, 2020

Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.

Breil T et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

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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."