Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.Y254D
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HSD17B1

NM_000413.4:p.Y254D

Associated Papers

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.

Al Alawi AM et al.

Endocrine, 2019

Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.

Simard J et al.

Endocrine Reviews, 2005

Site-directed mutagenesis identifies amino acid residues associated with the dehydrogenase and isomerase activities of human type I (placental) 3beta-hydroxysteroid dehydrogenase/isomerase.

Thomas JL et al.

The Journal of Steroid Biochemistry and Molecular Biology, 1998

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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."