Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.H232D
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HSD3B2

NM_000198.4:p.H232D

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

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

Nicola AG et al.

Diagnostics (basel, Switzerland), 2022

Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency.

Alkhatib EH et al.

Oxford Medical Case Reports, 2021

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