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Entry Name Description Category Pathway Gene
H01270 Familial hypobetalipoproteinemia ... of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease. Inherited metabolic disorder (FHBL1) APOB [HSA:338] [KO:K14462]
(FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]
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