Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.A386fs
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CYP11B1

NM_000497.4:p.A386fs

Associated Papers

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes.

Mercado Santis E et al.

Anales De Pediatria, 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."