Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion> ?p ?o ?g. }
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- NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_assertion type Assertion NP131912.RAM91M1v7zjPiYe_1hrxM4ZTTs-uBcY3kCsrXGZFNARGA130_head.
- 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.