Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion description "[Perforin missense mutations lead to absent perforin detection and impaired cytotoxicity and underly the diversity of hemophagocytic lymphohistiocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion evidence source_evidence_literature NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion SIO_000772 16374518 NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion wasDerivedFrom lhgdn-20090331 NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion wasGeneratedBy ECO_0000203 NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_provenance.