Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.P228L
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HSD17B3

NM_000197.2:p.P228L

Associated Papers

Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.

Wang Y et al.

Frontiers in Endocrinology, 2023

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

Pharmacogenomics of human P450 oxidoreductase.

Pandey AV et al.

Frontiers in Pharmacology, 2014

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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."