Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.L462P
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CYP11B1

NM_000497.4:p.L462P

Associated Papers

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

[Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene].

Lin Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.

Ozbas B et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2023

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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."