Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.F367I
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HSD11B2

NM_000196.4:p.F367I

Associated Papers

Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Charoenngam N et al.

Orphanet Journal of Rare Diseases, 2025

Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Lu YT et al.

Journal of Translational Medicine, 2022

Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension.

Yadav M et al.

Indian Journal of Pediatrics, 2021

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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."