Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.T318R
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CYP11B2

NM_000498.3:p.T318R

Associated Papers

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Nguyen HH et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2016

Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.

White PC

Advances in Experimental Medicine and Biology, 2011

[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."