Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.G314R
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CYP11B2

NM_000498.3:p.G314R

Associated Papers

Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family.

Xiong Y et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.

Li J et al.

Frontiers in Endocrinology, 2023

38027139 (PubMed )
Supplement: DataSheet_1.docx

A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.

Duan L et al.

Bmc Endocrine Disorders, 2018

Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.

White PC

Advances in Experimental Medicine and Biology, 2011

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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."