@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:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_head { this: np:hasAssertion dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_assertion; np:hasProvenance dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_provenance; np:hasPublicationInfo dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_publicationInfo; a np:Nanopublication . dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_assertion a np:Assertion . dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_provenance a np:Provenance . dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_publicationInfo a np:PublicationInfo . } dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_assertion { miriam-gene:10594 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGNda730406c917669d13b84751547d2c5b sio:SIO_000628 miriam-gene:10594, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_provenance { dgn-np:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_assertion dcterms:description "[Genes coding for components of the U4/U6.U5 tri small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome stand out, because mutations in four genes cause RP, i.e., RP9 (PAP1), RP11 (PRPF31), RP13 (PRPF8), and RP18 (PRPF3), while there is no degeneration outside the retina despite global expression of these genes.]. 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:18334927; 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:NP847052.RAwLfrGNxh_8OSnChVS1do2U5ByT1_DDqSesMHR-NZbAk130_publicationInfo { this: dcterms:created "2014-10-02T12:40:38+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" . }