@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:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_head { this: np:hasAssertion dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_assertion; np:hasProvenance dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_provenance; np:hasPublicationInfo dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_publicationInfo; a np:Nanopublication . dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_assertion a np:Assertion . dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_provenance a np:Provenance . dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_publicationInfo a np:PublicationInfo . } dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_assertion { miriam-gene:4868 a ncit:C16612 . lld:C0010709 a ncit:C7057 . dgn-gda:DGNb9c9b6cf272b9dfb175d2895b9548830 sio:SIO_000628 miriam-gene:4868, lld:C0010709; a sio:SIO_001121 . } dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_provenance { dgn-np:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_assertion dcterms:description "[Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1).]. 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:25557780; 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:NP1252909.RA0KnzIO2ws3Q-mPkhnQH_09jbDK5aFuQcsVn-Hi_0F94130_publicationInfo { this: dcterms:created "2016-05-13T12:51:14+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" . }