Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.Q170*
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CYP11B2

NM_000498.3:p.Q170*

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

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

Bizzarri C et al.

Italian Journal of Pediatrics, 2016

A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene.

Taranta A et al.

Gene, 2012

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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."