Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.E214G
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HSD17B3

NM_000197.2:p.E214G

Associated Papers

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Bonnet E et al.

Endocrine Connections, 2023

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).

Luna SE et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2021

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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."