Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_assertion wasGeneratedBy ECO_0000218 NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_assertion wasDerivedFrom uniprot-20150221 NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_assertion SIO_000772 9633819 NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_assertion evidence source_evidence_curated NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.
- NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_assertion description "[Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2486.RASX6RwYTSbQNVKSFUY3Mg5l6pdeAq_Uy2Y5BpRfQFSy0130_provenance.