Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_assertion wasGeneratedBy ECO_0000218 NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_assertion wasDerivedFrom uniprot-2016 NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_assertion SIO_000772 11326085 NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_assertion evidence source_evidence_curated NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.
- NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_assertion description "[Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1387.RAq0i0doR5l-hQOdYZn82MXxZB6De_AR6mePaLaoaZOVo130_provenance.