@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:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_head { this: np:hasAssertion dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_assertion; np:hasProvenance dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_provenance; np:hasPublicationInfo dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_publicationInfo; a np:Nanopublication . dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_assertion a np:Assertion . dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_provenance a np:Provenance . dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_publicationInfo a np:PublicationInfo . } dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_assertion { miriam-gene:7490 a ncit:C16612 . lld:C0017668 a ncit:C7057 . dgn-gda:DGNff97f757f563c8e023ff6ebd887e666f sio:SIO_000628 miriam-gene:7490, lld:C0017668; a sio:SIO_001121 . } dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_provenance { dgn-np:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_assertion dcterms:description "[Familial cases of WT1 mutations are rare with only few cases described in the literature, whereas cases of WT1 mutations associated with isolated nephrotic proteinuria with or without focal segmental glomerular sclerosis (FSGS) are even rarer.]. 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:24161391; 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:NP396708.RAEixjpmnXGjKXGHH-vPiZ7cMQKYhs1waWIO_jheC5a08130_publicationInfo { this: dcterms:created "2014-10-02T12:35:56+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" . }