Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.L212Q
Back to variants list

HSD17B3

NM_000197.2:p.L212Q

Associated Papers

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

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

17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.

Bertelloni S et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2006

[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].

Bertelloni S et al.

Minerva Pediatrica, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."