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- Bc5bd0c95505c303da949a3fbdf875248 NCIT_P378 "NCI" @default.
- Bc5bd0c95505c303da949a3fbdf875248 type Axiom @default.
- Bc5bd0c95505c303da949a3fbdf875248 annotatedProperty IAO_0000115 @default.
- Bc5bd0c95505c303da949a3fbdf875248 annotatedSource NCIT_C188896 @default.
- Bc5bd0c95505c303da949a3fbdf875248 annotatedTarget "Human LIPA wild-type allele is located in the vicinity of 10q23.31 and is approximately 201 kb in length. This allele, which encodes lysosomal acid lipase/cholesteryl ester hydrolase protein, plays a role in the lysosomal metabolism of low density lipoproteins. Loss of function gene mutations are associated with cholesteryl ester storage disease and Wolman disease." @default.