Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.S315R
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CYP11B2

NM_000498.3:p.S315R

Associated Papers

Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.

Miao H et al.

Steroids, 2019

Cytochromes p450: roles in diseases.

Pikuleva IA et al.

The Journal of Biological Chemistry, 2013

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.

Kondo E et al.

Endocrine Journal, 2013

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.

Nguyen HH et al.

Molecular Genetics and Metabolism, 2010

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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."