@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:publicationInfo; a np:Nanopublication . } sub:assertion { dgn-gda:DGNec04b34f7f0bd75fb4616d10ac3cc170 sio:SIO_000628 miriam-gene:118, lld:C0206636; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[Whereas the chondroma displayed the relatively simple karyotype 46,XY,add(12)(q13),der(17)t(12;17)(q13;q21), more complex changes were found in the three cases of chondromatosis: case 1, 47,XY,der(1)inv(1)(p13q25)del (1)(q25q32), t(1;12)(q25;q13), + 5,der(12)add(12)(p11)t(1;12)(p22;q13); case 2, 47,XY,add(10)(q26), + 20/46 idem,-6/46,XY,t(2;4)(q33;q21), add(21)(p11); and case 3, 44,XY,add(1)(p36), del(1)(p13p22),add(6)(p25), del(7) (q22q32),del(10)(q21),add(11)(q13),-17,-18.]. 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:8688330; prov:wasDerivedFrom dgn-void:BEFREE; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:10:16+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }