Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.R427H
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CYP11B2

NM_000498.3:p.R427H

Associated Papers

Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.

Abbaszadegan MR et al.

Endocrine, 2013

[11beta-hydroxylase deficiency].

Mello MP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.

Peter M et al.

Hormone Research, 1999

Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.

Cerame BI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

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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."