Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.R448C
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CYP11B2

NM_000498.3:p.R448C

Associated Papers

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Merakou C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.

White PC

Advances in Experimental Medicine and Biology, 2011

Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.

Cingöz S et al.

Journal of Endocrinological Investigation, 2007

[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

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Geley S et al.

The Journal of Clinical Endocrinology and Metabolism, 1996

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

Cerame BI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)].

Tiul'pakov AN

Problemy Endokrinologii, 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."