Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion> ?p ?o ?g. }
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- NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_assertion type Assertion NP536919.RAbYAlZ5mh3zzHtzSY1Ffe2U1ycMTY30R-6jhaKpstxmQ130_head.
- 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.