Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.N335D
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CYP11B1

NM_000497.4:p.N335D

Associated Papers

Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family.

Xiong Y et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

Different effects of progesterone and estradiol on chimeric and wild type aldosterone synthase in vitro.

Vecchiola A et al.

Reproductive Biology and Endocrinology : Rb&e, 2013

Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.

Nicod J et al.

Molecular and Cellular Endocrinology, 2004

Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones.

Böttner B et al.

European Journal of Biochemistry, 1998

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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."