@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:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_head { this: np:hasAssertion dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion; np:hasProvenance dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance; np:hasPublicationInfo dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_publicationInfo; a np:Nanopublication . dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion a np:Assertion . dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance a np:Provenance . dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_publicationInfo a np:PublicationInfo . } dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion { miriam-gene:6598 a ncit:C16612 . lld:C0280788 a ncit:C7057 . dgn-gda:DGN77d2ee3e0f8c8cabab86425eb0347e84 sio:SIO_000628 miriam-gene:6598, lld:C0280788; a sio:SIO_001121 . } dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance { dgn-np:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion dcterms:description "[In addition, this gene may be responsible for a new hereditary syndrome predisposing to a variety of tumors designated rhabdoid predisposition syndrome. In the present study, we analyzed a series of 53 ependymal tumors of 48 patients [4 myxopapillary ependymomas (WHO grade I), 3 subependymomas (WHO grade I), 18 ependymomas (WHO grade II), 21 anaplastic ependymomas (WHO grade III) and 2 ependymoblastomas (WHO grade IV)] for mutations and homozygous deletions in the coding region of the hSNF5/INI1 gene and for allelic loss of its flanking chromosomal regions in 39 ependymal tumors of 35 patients.]. 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:11547953; 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:NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_publicationInfo { this: dcterms:created "2016-05-13T12:44:15+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" . }