@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:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_head { this: np:hasAssertion dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_assertion; np:hasProvenance dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_provenance; np:hasPublicationInfo dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_publicationInfo; a np:Nanopublication . dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_assertion a np:Assertion . dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_provenance a np:Provenance . dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_publicationInfo a np:PublicationInfo . } dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_assertion { miriam-gene:4771 a ncit:C16612 . lld:C0027832 a ncit:C7057 . dgn-gda:DGNafa7cb3009ce89d2089c84d77e97abd1 sio:SIO_000628 miriam-gene:4771, lld:C0027832; a sio:SIO_001122 . } dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_provenance { dgn-np:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_assertion dcterms:description "[A constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.]. 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:11836375; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP153272.RAHLFeK6SQUU8Fx5WXzm9kWPZvzJZ3EHPb6v4idhpzzak130_publicationInfo { this: dcterms:created "2014-10-02T12:33:21+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" . }