Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.R52_K54Fs
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HSD3B2

NM_000198.4:p.R52_K54Fs

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

Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.

Almaramhy HH et al.

Frontiers in Genetics, 2023

37384334 (PubMed )
Supplement: Table3.xls › Sheet2

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.

Nicola AG et al.

Diagnostics (basel, Switzerland), 2022

Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.

Chen L et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 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."