@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:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_head { this: np:hasAssertion dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_assertion; np:hasProvenance dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_provenance; np:hasPublicationInfo dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_publicationInfo; a np:Nanopublication . dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_assertion a np:Assertion . dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_provenance a np:Provenance . dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_publicationInfo a np:PublicationInfo . } dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_assertion { miriam-gene:535 a ncit:C16612 . lld:C0010054 a ncit:C7057 . dgn-gda:DGN81f2ce6e9f0f3568c858999c544380e0 sio:SIO_000628 miriam-gene:535, lld:C0010054; a sio:SIO_001122 . } dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_provenance { dgn-np:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_assertion dcterms:description "[This polymorphism is situated between the transcriptional starting site and the signal peptide start coding site (intron 1), so may influence the efficiency of surrounding splicing, thereby interfering with the expression of the apo A-I gene product, or serve as a linkage marker with a hitherto unidentified mutation defect responsible for hyperlipidemia and/or premature coronary heart disease.]. 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:8934336; 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:NP256938.RAz9zJEWqAzNvGYh95oh_SmtRsCq7csp6Fn8JCmNoRPbo130_publicationInfo { this: dcterms:created "2015-08-25T14:40:06+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" . }