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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B2

Variant:p.L250P

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HSD17B2

NM_002153.3:p.L250P

hg38:chr16:82090986 T>C

Associated Papers

[Deficiency of 11beta-hydroxysteroid dehydrogenase type 2 (syndrome of apparent mineralocorticoid excess)].

Mune T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

16776240 (PubMed )

11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.

White PC et al.

Endocrine Reviews, 1997

9034789 (PubMed )

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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."