@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:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_head { this: np:hasAssertion dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_assertion; np:hasProvenance dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_provenance; np:hasPublicationInfo dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_publicationInfo; a np:Nanopublication . dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_assertion a np:Assertion . dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_provenance a np:Provenance . dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_publicationInfo a np:PublicationInfo . } dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_assertion { miriam-gene:2200 a ncit:C16612 . lld:C1321551 a ncit:C7057 . dgn-gda:DGN490a4cd634cb801389e4df25313d7572 sio:SIO_000628 miriam-gene:2200, lld:C1321551; a sio:SIO_001121 . } dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_provenance { dgn-np:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_assertion dcterms:description "[Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.]. 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:9401003; 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:NP417716.RABYxhG7O98tArdW_HaZInnvkhjKQwwzznlEUCJ4bxon4130_publicationInfo { this: dcterms:created "2014-10-02T12:36:08+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" . }