Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.G103Splc
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HSD3B2

NM_000198.4:p.G103Splc

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

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

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
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