@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:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_head { this: np:hasAssertion dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_assertion; np:hasProvenance dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_provenance; np:hasPublicationInfo dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_publicationInfo; a np:Nanopublication . dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_assertion a np:Assertion . dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_provenance a np:Provenance . dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_publicationInfo a np:PublicationInfo . } dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_assertion { miriam-gene:54657 a ncit:C16612 . lld:C0010324 a ncit:C7057 . dgn-gda:DGN34cb6fb0165c7a47c4499e7961083ec1 sio:SIO_000628 miriam-gene:54657, lld:C0010324; a sio:SIO_001121 . } dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_provenance { dgn-np:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_assertion dcterms:description "[As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis.]. 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:12378576; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP407516.RAn86AK3pg_OaLlRd7MR66nZyGVzoT1MPU7RI1qjySuxc130_publicationInfo { this: dcterms:created "2014-10-02T12:36:02+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" . }