@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:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_head { this: np:hasAssertion dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_assertion; np:hasProvenance dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_provenance; np:hasPublicationInfo dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_publicationInfo; a np:Nanopublication . dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_assertion a np:Assertion . dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_provenance a np:Provenance . dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_publicationInfo a np:PublicationInfo . } dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_assertion { miriam-gene:10923 a ncit:C16612 . lld:C0041107 a ncit:C7057 . dgn-gda:DGN13b9537caf9b24f2480a91af48a0397b sio:SIO_000628 miriam-gene:10923, lld:C0041107; a sio:SIO_001121 . } dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_provenance { dgn-np:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_assertion dcterms:description "[Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p): In this report we present a 38 year-old, severely mentally retarded female with 9p trisomy due to isochromosome 9p, i(9p), formation and translocation of the long arm of the rearranged chromosome 9 onto the telomere region of the short arm of chromosome 11: karyotype: 46, XX, -9, -11, +i(9p), +der(11) t(9;11) (q12;p15.5).]. 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:9777345; 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:NP222020.RAFONwrZKuTKgHWMB6PVJCHnor0PVXOjt70u-PDljdL64130_publicationInfo { this: dcterms:created "2014-10-02T12:34:03+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" . }