Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.L363P
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HSD11B2

NM_000196.4:p.L363P

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

Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.

Fan P et al.

Endocrine, 2020

Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.

Carvajal CA et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Yau M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Apparent mineralocorticoid excess caused by a novel mutation in 11β-hydroxysteroid dehydrogenase type 2 gene.

Wang Y et al.

Journal of Hypertension, 2017

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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."