@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:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_head { this: np:hasAssertion dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_assertion; np:hasProvenance dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_provenance; np:hasPublicationInfo dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_publicationInfo; a np:Nanopublication . dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_assertion a np:Assertion . dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_provenance a np:Provenance . dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_publicationInfo a np:PublicationInfo . } dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_assertion { miriam-gene:5498 a ncit:C16612 . lld:C1621958 a ncit:C7057 . dgn-gda:DGNfcc4386f4f99b242cf29a6ed3e732eca sio:SIO_000628 miriam-gene:5498, lld:C1621958; a sio:SIO_001121 . } dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_provenance { dgn-np:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_assertion dcterms:description "[We have also detected four polymorphic positions, three non-coding and one non-synonymous coding: c.-414A>C; IVS2+121G>C; c.1188G>A and IVS12+34C>T. Although IVS12+34C>T change has been reported to cause VP, generalized linear model (GLM) analyses showed no significant association between these SNPs and phenotypic manifestations.]. 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:19229653; 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:NP494935.RAbg2Ac1B3c_szbxdP2DXoGRV8LuUCgbqxzfkq5i9vQ9A130_publicationInfo { this: dcterms:created "2014-10-02T12:36:55+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" . }