@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:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_head { this: np:hasAssertion dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_assertion; np:hasProvenance dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_provenance; np:hasPublicationInfo dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_publicationInfo; a np:Nanopublication . dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_assertion a np:Assertion . dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_provenance a np:Provenance . dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_publicationInfo a np:PublicationInfo . } dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_assertion { miriam-gene:1785 a ncit:C16612 . lld:C0175778 a ncit:C7057 . dgn-gda:DGNf22519f1c1170e8b1072016d3e2f2523 sio:SIO_000628 miriam-gene:1785, lld:C0175778; a sio:SIO_001121 . } dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_provenance { dgn-np:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_assertion dcterms:description "[The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.]. 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:15994868; 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:NP632607.RAZoIChOEHZFpJuXcE_fhQrzn2BckH4Ciw4IP9otY_y0I130_publicationInfo { this: dcterms:created "2014-10-02T12:38:22+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" . }