Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.E63K
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HSD17B6

NM_003725.4:p.E63K

Associated Papers

A Dynamic Gate Enables Regioselective Hydroxylation of Free Arginine by a Non-Canonical Heme Enzyme.

Sun Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

41221789 (PubMed )
Supplement: ADVS-13-e13032-s001.docx

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."