Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.G452R
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CYP11B2

NM_000498.3:p.G452R

Associated Papers

Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review.

Gawlik Z et al.

Pediatric Endocrinology, Diabetes, and Metabolism, 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."