@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:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_head { this: np:hasAssertion dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_assertion; np:hasProvenance dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_provenance; np:hasPublicationInfo dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_publicationInfo; a np:Nanopublication . dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_assertion a np:Assertion . dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_provenance a np:Provenance . dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_publicationInfo a np:PublicationInfo . } dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_assertion { miriam-gene:6281 a ncit:C16612 . lld:C0424605 a ncit:C7057 . dgn-gda:DGNe0fb9e53b2dcc999b4ab9d089772ee95 sio:SIO_000628 miriam-gene:6281, lld:C0424605; a sio:SIO_001121 . } dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_provenance { dgn-np:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_assertion dcterms:description "[A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11).]. 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:4050866; 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:NP664144.RAUn2dHqTOotb0h1OPK-e8ewPOYbyup5u2mU2S34r0zss130_publicationInfo { this: dcterms:created "2014-10-02T12:38:41+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" . }