@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:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_head { this: np:hasAssertion dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion; np:hasProvenance dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_provenance; np:hasPublicationInfo dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_publicationInfo; a np:Nanopublication . dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion a np:Assertion . dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_provenance a np:Provenance . dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion { miriam-gene:4488 a ncit:C16612 . lld:C0175699 a ncit:C7057 . dgn-gda:DGN2571bf9ae8259f37609478ab474d124c sio:SIO_000628 miriam-gene:4488, lld:C0175699; a sio:SIO_001121 . } dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_provenance { dgn-np:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_assertion dcterms:description "[However, the absence of MSX2 mutations in some of the FPP patients analysed and the presence of FPP associated with chromosome 11p deletions in DEFECT 11 (OMIM 601224) patients or associated with Saethre-Chotzen syndrome suggests genetic heterogeneity for this disorder.]. 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:11106354; 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:NP410361.RADM9PhLJHdj5rVvGUXjxKT7e9sOikNQt_mX2qsSRBsiQ130_publicationInfo { this: dcterms:created "2014-10-02T12:36:04+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" . }