@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:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_head { this: np:hasAssertion dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_assertion; np:hasProvenance dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_provenance; np:hasPublicationInfo dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_publicationInfo; a np:Nanopublication . dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_assertion a np:Assertion . dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_provenance a np:Provenance . dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_publicationInfo a np:PublicationInfo . } dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_assertion { miriam-gene:9056 a ncit:C16612 . lld:C1396243 a ncit:C7057 . dgn-gda:DGN8c721dbf5607329925b534369f6c76eb sio:SIO_000628 miriam-gene:9056, lld:C1396243; a sio:SIO_001121 . } dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_provenance { dgn-np:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_assertion dcterms:description "[In the present study, genomic structure of SLC7A7 in six Turkish patients with lysinuric protein intolerance was examined in order to detect disease causing mutations by denaturing high pressure liquid chromatography and direct sequencing.]. 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:23542076; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP814413.RArrbMF3EednOLHFTrN08eAHqBNfBlJS_WgoaOLMaRL5w130_publicationInfo { this: dcterms:created "2015-08-25T14:45:53+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }