Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.H466_V467Splc
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CYP11B2

NM_000498.3:p.H466_V467Splc

Associated Papers

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Merakou C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.

Ruecker B et al.

Hormone Research in Paediatrics, 2015

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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."