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Bile Acid Synthesis Congenital Defect (gene panel)
AKR1D1
,
AMACR
,
CYP7B1
,
HSD3B7
,
CYP27A1
Bile Acid Synthesis Congenital Defect (5 genes) - UCL
Congenital bile acid synthesis defect type 2
,
Congenital bile acid synthesis defect type 4
,
Cerebrotendinous xanthomatosis
,
Congenital bile acid synthesis defect type 3
,
Congenital bile acid synthesis defect type 1
Centre de Génétique Médicale UCL
Bloom syndrome
BLM
Bloom syndrome
Centrum Medische Genetica - UZ Gent
Bloom syndrome
BLM
Bloom syndrome
Centrum Menselijke Erfelijkheid - KUL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centrum Menselijke Erfelijkheid - KUL
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