Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.W168*
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HSD3B7

NM_025193.4:p.W168*

Associated Papers

Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China.

Zhao J et al.

Orphanet Journal of Rare Diseases, 2021

Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.

Fang Y et al.

Frontiers in Pediatrics, 2021

33763395 (PubMed )
Supplement: Data_Sheet_1.PDF

Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.

Huang HY et al.

Chinese Medical Journal, 2016

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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."