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Results for the Protein:
Q9H2F3
47605550
80270
HSD3B7
NCBI
,
UniProt
3BHS7_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Full=3 beta-hydroxysteroid dehydrogenase type VII; Short=3-beta-HSD VII; AltName: Full=3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; Short=C(27) 3-beta-HSD; AltName: Full=Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
Known Diseases associated with this Protein:
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
CONGENITAL BILE ACID SYNTHESIS DEFECT 1 (CBAS1)
3
2
1
2
2
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