Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_assertion description "[De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_assertion evidence source_evidence_curated NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_assertion SIO_000772 21706002 NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_assertion wasDerivedFrom ctd_human-20130708 NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_assertion wasGeneratedBy ECO_0000218 NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP9276.RA-ayQK8FjqYnOUce-NwGODc1AriYMCekWXHTmyaeRal0130_provenance.