Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.L464_H465ins0
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CYP11B2

NM_000498.3:p.L464_H465ins0

Associated Papers

Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism.

Ahmed MMH et al.

Clinical Case Reports, 2026

Clinical analysis of salt-wasting in infants due to genetic aetiology.

Xie Y et al.

Endokrynologia Polska, 2024

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Ur Rehman S et al.

Cureus, 2023

Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study.

Liu X et al.

Frontiers in Pediatrics, 2023

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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."