@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:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_head { this: np:hasAssertion dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_assertion; np:hasProvenance dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_provenance; np:hasPublicationInfo dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_publicationInfo; a np:Nanopublication . dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_assertion a np:Assertion . dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_provenance a np:Provenance . dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_publicationInfo a np:PublicationInfo . } dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_assertion { miriam-gene:3664 a ncit:C16612 . lld:C0037268 a ncit:C7057 . dgn-gda:DGN58a7c9af2766d315a1e0848fabd66d0f sio:SIO_000628 miriam-gene:3664, lld:C0037268; a sio:SIO_001121 . } dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_provenance { dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_assertion dcterms:description "[Mice deficient for Irf6 have not been reported, but in humans, mutations in IRF6 cause two mendelian orofacial clefting syndromes, and genetic variation in IRF6 confers risk for isolated cleft lip and palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:17041601; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP20418.RAQtMgRzCFZ096cjb4wo4sP-CYTrJxQRijOZLtp9UIJfM130_publicationInfo { this: dcterms:created "2014-10-02T12:32:07+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" . }