@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:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_head { this: np:hasAssertion dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_assertion; np:hasProvenance dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_provenance; np:hasPublicationInfo dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_publicationInfo; a np:Nanopublication . dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_assertion a np:Assertion . dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_provenance a np:Provenance . dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_publicationInfo a np:PublicationInfo . } dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_assertion { miriam-gene:1296 a ncit:C16612 . lld:C1567741 a ncit:C7057 . dgn-gda:DGNe5ce4fff726e5b18e2ea9c0965e3ae52 sio:SIO_000628 miriam-gene:1296, lld:C1567741; a sio:SIO_001121 . } dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_provenance { dgn-np:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_assertion dcterms:description "[Thus, this study has identified TCF8 as the gene responsible for approximately half of the cases of PPCD, has implicated TCF8 mutations in developmental abnormalities outside the eye, and has presented the TCF8 regulatory target, COL4A3, as a key, shared molecular component of two different diseases, PPCD and Alport 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:16252232; 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:NP167894.RAwVHDLUxNECRaSaQt3zmrm4T9uSmq9EnVW9IzFl76iCM130_publicationInfo { this: dcterms:created "2014-10-02T12:33:31+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" . }