@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:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_head { this: np:hasAssertion dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_assertion; np:hasProvenance dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_provenance; np:hasPublicationInfo dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_publicationInfo; a np:Nanopublication . dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_assertion a np:Assertion . dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_provenance a np:Provenance . dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_publicationInfo a np:PublicationInfo . } dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_assertion { miriam-gene:1286 a ncit:C16612 . lld:C0241908 a ncit:C7057 . dgn-gda:DGN2c2cc3ff423f62ebbfcd23416ce3078a sio:SIO_000628 miriam-gene:1286, lld:C0241908; a sio:SIO_001121 . } dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_provenance { dgn-np:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_assertion dcterms:description "[It became evident in recent years that mutations in the COL4A3 or the COL4A4 gene can give rise not only to autosomal recessive ATS syndrome, in which males and females are severely affected, but also to an autosomal dominant form, where the clinical progression towards impaired renal function can be very slow and also to benign familial hematuria (BFH) in which renal function is preserved.]. 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:12768082; 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:NP487320.RAbwEqm7vzBCc5Bn8a_D3mhCMwkUYO2i1mZWq1YdVxX_I130_publicationInfo { this: dcterms:created "2014-10-02T12:36:51+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" . }