@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:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_head { this: np:hasAssertion dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_assertion; np:hasProvenance dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_provenance; np:hasPublicationInfo dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_publicationInfo; a np:Nanopublication . dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_assertion a np:Assertion . dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_provenance a np:Provenance . dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_publicationInfo a np:PublicationInfo . } dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_assertion { miriam-gene:3849 a ncit:C16612 . lld:C0432306 a ncit:C7057 . dgn-gda:DGN7c1392f825b5e410687c51369710b381 sio:SIO_000628 miriam-gene:3849, lld:C0432306; a sio:SIO_001121 . } dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_provenance { dgn-np:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_assertion dcterms:description "[In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994.]. 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:15949009; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP498886.RAIxZlfXGEkCQPHYR7R2w2ll2PHXWn9ywK3wjIOzRn3RY130_publicationInfo { this: dcterms:created "2016-05-13T12:45:31+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }