@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:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_head { this: np:hasAssertion dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion; np:hasProvenance dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_provenance; np:hasPublicationInfo dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_publicationInfo; a np:Nanopublication . dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion a np:Assertion . dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_provenance a np:Provenance . dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_publicationInfo a np:PublicationInfo . } dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion { miriam-gene:5076 a ncit:C16612 . lld:C1852759 a ncit:C7057 . dgn-gda:DGN15d93b5353f5e155933f82dd790dc129 sio:SIO_000628 miriam-gene:5076, lld:C1852759; a sio:SIO_001121 . } dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_provenance { dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion dcterms:description "[We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.]. 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:9783702; 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:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_publicationInfo { this: dcterms:created "2016-05-13T12:52:24+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" . }