Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.N201D
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CYP11B2

NM_000498.3:p.N201D

Associated Papers

Severe Aldosterone Synthase Deficiency in a 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in CYP11B2.

Ghaddhab C et al.

Hormone Research in Paediatrics, 2025

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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."