Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.H466_V467Splc
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CYP11B1

NM_000497.4:p.H466_V467Splc

Associated Papers

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.

Liu H et al.

Endocrine, 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

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

Zhou Q et al.

Frontiers in Pediatrics, 2020

The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.

Dundar A et al.

Molecular Biology Reports, 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

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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."