@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:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_head { this: np:hasAssertion dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_assertion; np:hasProvenance dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_provenance; np:hasPublicationInfo dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_publicationInfo; a np:Nanopublication . dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_assertion a np:Assertion . dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_provenance a np:Provenance . dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_publicationInfo a np:PublicationInfo . } dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_assertion { miriam-gene:3480 a ncit:C16612 . lld:C0036857 a ncit:C7057 . dgn-gda:DGNde56bccb8f635a89296760e843e269ce sio:SIO_000628 miriam-gene:3480, lld:C0036857; a sio:SIO_001121 . } dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_provenance { dgn-np:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_assertion dcterms:description "[Clinical work-up of this newly identified family, which constitutes the smallest (0.095 Mb) pure 15q26.3 interstitial deletion to date, confirms that disruption of the IGF1R gene does not induce major organ malformation or severe mental retardation.]. 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:19955558; 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:NP675807.RAiaugM6e0_ap1rFv_R3cOnuqvjkuAfVus2FDC0GdqzIU130_publicationInfo { this: dcterms:created "2014-10-02T12:38:48+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" . }