@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:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_head { this: np:hasAssertion dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_assertion; np:hasProvenance dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_provenance; np:hasPublicationInfo dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_publicationInfo; a np:Nanopublication . dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_assertion a np:Assertion . dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_provenance a np:Provenance . dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_publicationInfo a np:PublicationInfo . } dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_assertion { miriam-gene:7827 a ncit:C16612 . lld:C0027726 a ncit:C7057 . dgn-gda:DGN8a32cc1e18d93d877d7695603c0d3f79 sio:SIO_000628 miriam-gene:7827, lld:C0027726; a sio:SIO_001122 . } dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_provenance { dgn-np:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_assertion dcterms:description "[In steroid-resistant nephrotic syndrome some missense mutations in NPHS2 lead to misfolding and mislocalization of mutated podocin and interfere with slit diaphragm structure and function by altering proper trafficking of nephrin to plasma membrane.]. 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:15496146; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP207431.RAo0KAF_wT-x2n9Ivavl5ql7pMwSkpIXy8dxxN5TpBxcA130_publicationInfo { this: dcterms:created "2016-05-13T12:43:20+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" . }