@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:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_head { this: np:hasAssertion dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_assertion; np:hasProvenance dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_provenance; np:hasPublicationInfo dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_publicationInfo; a np:Nanopublication . dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_assertion a np:Assertion . dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_provenance a np:Provenance . dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_publicationInfo a np:PublicationInfo . } dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_assertion { miriam-gene:26580 a ncit:C16612 . lld:C0683322 a ncit:C7057 . dgn-gda:DGN0115a1dea003f2e006652aeafdf8297c sio:SIO_000628 miriam-gene:26580, lld:C0683322; a sio:SIO_001121 . } dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_provenance { dgn-np:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_assertion dcterms:description "[The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling.]. 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:12362029; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP883934.RAFYU01oITlWjLy7k3R0F6ThS6Ok0Ic2EL0HMhwai0B-8130_publicationInfo { this: dcterms:created "2015-08-25T14:46:38+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }