Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.V148G
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CYP11B1

NM_000497.4:p.V148G

Associated Papers

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Lu WL et al.

World Journal of Pediatrics : Wjp, 2024

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.

Liu H 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

A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.

Zhang M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2013

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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."