Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.K174*
Back to variants list

CYP11B2

NM_000498.3:p.K174*

Associated Papers

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

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Curnow KM et al.

Proceedings of the National Academy of Sciences of the United States of America, 1993

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

Cerame BI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."