Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.A203E
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HSD17B3

NM_000197.2:p.A203E

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

Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.

Gonçalves CI et al.

International Journal of Molecular Sciences, 2022

36077423 (PubMed )
Supplement: ijms-23-10026-s001.zip › ijms-1813632-supplementary.pdf

17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.

Faienza MF et al.

Journal of Endocrinological Investigation, 2020

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.

Castro CC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.

George MM et al.

Hormone Research in Paediatrics, 2010

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

Bertelloni S et al.

Journal of Endocrinological Investigation, 2009

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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."