@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:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_head { this: np:hasAssertion dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_assertion; np:hasProvenance dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_provenance; np:hasPublicationInfo dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_publicationInfo; a np:Nanopublication . dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_assertion a np:Assertion . dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_provenance a np:Provenance . dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_publicationInfo a np:PublicationInfo . } dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_assertion { miriam-gene:8626 a ncit:C16612 . lld:C0008924 a ncit:C7057 . dgn-gda:DGN64262f4be1beb7615c024d076bf756c6 sio:SIO_000628 miriam-gene:8626, lld:C0008924; a sio:SIO_001121 . } dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_provenance { dgn-np:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_assertion dcterms:description "[The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients.]. 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:21434540; 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:NP881950.RAI02TYDCA0zTqBLOf4BTMTLGS6lkpcCuxzeaV8eQWs_s130_publicationInfo { this: dcterms:created "2016-05-13T12:48:24+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" . }