Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.E301fs
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HSD11B2

NM_000196.4:p.E301fs

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

41316338 (PubMed )
Supplement: 13023_2025_4160_MOESM1_ESM.docx

Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.

Vallabhaneni P et al.

Cen Case Reports, 2025

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.

Pratamawati TM et al.

International Journal of Hypertension, 2023

Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Lu YT et al.

Journal of Translational Medicine, 2022

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis.

Bertulli C et al.

Children (basel, Switzerland), 2020

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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."