Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.R454H
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CYP11B2

NM_000498.3:p.R454H

Associated Papers

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

Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.

Wang X et al.

Steroids, 2015

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