@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:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_head { this: np:hasAssertion dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_assertion; np:hasProvenance dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_provenance; np:hasPublicationInfo dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_publicationInfo; a np:Nanopublication . dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_assertion a np:Assertion . dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_provenance a np:Provenance . dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_publicationInfo a np:PublicationInfo . } dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_assertion { miriam-gene:3784 a ncit:C16612 . lld:C0023976 a ncit:C7057 . dgn-gda:DGN84a554dbbc0fc5a4251f3a553c60341e sio:SIO_000628 miriam-gene:3784, lld:C0023976; a sio:SIO_001121 . } dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_provenance { dgn-np:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_assertion dcterms:description "[We report here 20 single nucleotide polymorphisms (SNPs), including 10 novel ones, and their allelic frequencies detected in four genes that are known to be responsible for familial long QT syndrome in the Japanese population; 7 polymorphisms are in the KCNQ1 gene, 6 in the KCNH2 gene, 5 in the SCN5A gene, and 2 in the KCNE1 gene.]. 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:10807545; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP283595.RAMSQvoaTfmRZMkdh9VbzhBgPCXXMNgiF-aHnGPvraEAA130_publicationInfo { this: dcterms:created "2016-05-13T12:43:54+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }