@prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_head { this: np:hasAssertion dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_assertion; np:hasProvenance dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_provenance; np:hasPublicationInfo dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_publicationInfo; a np:Nanopublication . dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_assertion a np:Assertion . dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_provenance a np:Provenance . dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_publicationInfo a np:PublicationInfo . } dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_assertion { miriam-gene:7490 a ncit:C16612 . lld:C0027708 a ncit:C7057 . dgn-gda:DGN5367866083b2ec494832bac9405f80dd sio:SIO_000628 miriam-gene:7490, lld:C0027708; a sio:SIO_001121 . } dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_provenance { dgn-np:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_assertion dcterms:description "[Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome.]. 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:10505699; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP264482.RA9IgAVUsjA4Rs7dJuf10a0s6F9Hw_1JAVfzMpQLPzbaw130_publicationInfo { this: dcterms:created "2016-05-13T12:43:46+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }