@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:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_head { this: np:hasAssertion dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_assertion; np:hasProvenance dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_provenance; np:hasPublicationInfo dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_publicationInfo; a np:Nanopublication . dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_assertion a np:Assertion . dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_provenance a np:Provenance . dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_publicationInfo a np:PublicationInfo . } dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_assertion { miriam-gene:7278 a ncit:C16612 . lld:C0162361 a ncit:C7057 . dgn-gda:DGN6684166ce7b0060ce04259b1f484f676 sio:SIO_000628 miriam-gene:7278, lld:C0162361; a sio:SIO_001121 . } dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_provenance { dgn-np:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_assertion dcterms:description "[However, the present data offer the possibility of testing the involvement of the TUBA2 gene in the Clouston hidrotic ectodermal dysplasia and the Kabuki syndrome, two genetic diseases that have recently been mapped to the 13q11 region.]. 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:9465305; 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:NP508209.RA7S0EWz_dqAvRfTEPGHSjsRx18SWKdO_sa7bj8N0lu-k130_publicationInfo { this: dcterms:created "2014-10-02T12:37:03+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" . }