Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.V441G
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CYP11B2

NM_000498.3:p.V441G

Associated Papers

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

Peter M et al.

Hormone Research, 1999

Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.

Zhang G et al.

American Journal of Human Genetics, 1995

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

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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."