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- source_evidence_literature type ECO_0000212 NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion wasGeneratedBy ECO_0000203 NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion wasDerivedFrom befree-20150227 NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion SIO_000772 23403440 NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion evidence source_evidence_literature NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.
- NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion description "[LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_provenance.