Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.V132F
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HSD3B7

NM_025193.4:p.V132F

Associated Papers

Inborn errors of bile acid metabolism in Japan.

Mizuochi T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2023

Neonatal cholestasis with increased 3β-monohydroxy-Δ⁵ bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency.

Kimura A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.

Mizuochi T et al.

Pediatric Research, 2010

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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."