@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:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_head { this: np:hasAssertion dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_assertion; np:hasProvenance dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_provenance; np:hasPublicationInfo dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_publicationInfo; a np:Nanopublication . dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_assertion a np:Assertion . dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_provenance a np:Provenance . dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_publicationInfo a np:PublicationInfo . } dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_assertion { miriam-gene:7428 a ncit:C16612 . lld:C0027831 a ncit:C7057 . dgn-gda:DGNbd3b2c729a5baf61823f0af311ae8907 sio:SIO_000628 miriam-gene:7428, lld:C0027831; a sio:SIO_001121 . } dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_provenance { dgn-np:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_assertion dcterms:description "[Forty-one (6.7%) of the 609 patients had phaeochromocytomas, of which 28 were sporadic (25 benign and three malignant) and 13 (all benign) were associated with hereditary diseases (multiple endocrine neoplasia type 2A in seven cases from four unrelated families carrying mutations of the RET gene, von Hippel-Lindau disease in two unrelated cases with mutations of the VHL gene, and type 1 neurofibromatosis in four unrelated cases).]. 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:15452453; 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:NP284838.RAZBvrVdKvZC64SCnrxnJwgspObv_o7IiZO8cBzFO6gcc130_publicationInfo { this: dcterms:created "2014-10-02T12:34:40+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" . }