Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_assertion description "[We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_assertion evidence source_evidence_literature NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_assertion SIO_000772 19020205 NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_assertion wasDerivedFrom befree-20140225 NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_assertion wasGeneratedBy ECO_0000203 NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP655688.RAJd6DtSayh4FVxmcYwH2nXaTkePZCntBLIyL5XFat1C4130_provenance.