Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1
Variant:p.K187N
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HSD11B1

NM_005525.4:p.K187N

Associated Papers

[Importance of the 11β-hydroxysteroid dehydrogenase enzyme in clinical disorders].

Feldman K et al.

Orvosi Hetilap, 2013

Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.

Lawson AJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Mutations of key hydrophobic surface residues of 11 beta-hydroxysteroid dehydrogenase type 1 increase solubility and monodispersity in a bacterial expression system.

Lawson AJ et al.

Protein Science : a Publication of the Protein Society, 2009

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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."