@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:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_head { this: np:hasAssertion dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_assertion; np:hasProvenance dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_provenance; np:hasPublicationInfo dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_publicationInfo; a np:Nanopublication . dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_assertion a np:Assertion . dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_provenance a np:Provenance . dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_publicationInfo a np:PublicationInfo . } dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_assertion { miriam-gene:1286 a ncit:C16612 . lld:C0022661 a ncit:C7057 . dgn-gda:DGN84fa7ccecd2904934ecafce6f94812a0 sio:SIO_000628 miriam-gene:1286, lld:C0022661; a sio:SIO_001121 . } dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_provenance { dgn-np:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_assertion dcterms:description "[Our data confirm for the first time a definite association of heterozygous COL4A3/COL4A4 mutations with familial microscopic haematuria, thin basement membrane nephropathy and the late development of familial proteinuria, CRF, and ESRD, due to FSGS, indicating that the term 'benign familial haematuria' is a misnomer, at least in this cohort.]. 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:19357112; 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:NP634580.RAVJsEW_nOPzV6fT0jNDsvcy7dAUidCGST_UnuJYYSdhE130_publicationInfo { this: dcterms:created "2014-10-02T12:38:23+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" . }