Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.S124G
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HSD3B2

NM_000198.4:p.S124G

Associated Papers

Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.

Gawlik Z et al.

Frontiers in Endocrinology, 2025

Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.

Pathak D et al.

Dna and Cell Biology, 2024

Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation.

Yazawa T et al.

Frontiers in Endocrinology, 2024

Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants.

Menegatti E et al.

Journal of Clinical Medicine, 2022

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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."