@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_head { this: np:hasAssertion dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_assertion; np:hasProvenance dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_provenance; np:hasPublicationInfo dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_publicationInfo; a np:Nanopublication . dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_assertion a np:Assertion . dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_provenance a np:Provenance . dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_publicationInfo a np:PublicationInfo . } dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_assertion { miriam-gene:2153 a ncit:C16612 . lld:C0031069 a ncit:C7057 . dgn-gda:DGNaf80746e4a4e738aa04012de6064d791 sio:SIO_000628 miriam-gene:2153, lld:C0031069; a sio:SIO_001122 . } dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_provenance { dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_assertion dcterms:description "[Thus, we devised a strategy that allows us to monitor the possible interference of additional mutations or SNPs at probe or stabilizer sequences. Finally, a comparative cost per sample analysis demonstrates that the accurate and reproducible FMF mutation detection assay we developed can be readily implemented in the clinical laboratory setting at reasonable expense. Hum Mutat]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:15146467; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP44447.RAdFmpmYozxos1ZTPzFlDlQjowcqCCU2LOVmH95on7wDI130_publicationInfo { this: dcterms:created "2014-10-02T12:32:20+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }