@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:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_head { this: np:hasAssertion dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_assertion; np:hasProvenance dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_provenance; np:hasPublicationInfo dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_publicationInfo; a np:Nanopublication . dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_assertion a np:Assertion . dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_provenance a np:Provenance . dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_publicationInfo a np:PublicationInfo . } dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_assertion { miriam-gene:4653 a ncit:C16612 . lld:C0017612 a ncit:C7057 . dgn-gda:DGNe146183abb26b17e7d458b4119efa24f sio:SIO_000628 miriam-gene:4653, lld:C0017612; a sio:SIO_001122 . } dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_provenance { dgn-np:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_assertion dcterms:description "[To investigate mechanism(s) by which mutations in the olfactomedin domain of myocilin (MYOC), also known as the trabecular meshwork-induced glucocorticoid response (TIGR) gene, cause autosomal dominant open-angle glaucoma, the structure and properties of wild-type (WT) MYOC protein were examined, when expressed alone or simultaneously with the Q368X or K423E disease-associated polypeptides.]. 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:15452063; 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:NP462262.RAefG9_WE8fOn5LQT8O7mE1nAQ8yGH7vkib8wo-pk1d-4130_publicationInfo { this: dcterms:created "2016-05-13T12:45:14+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" . }