@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:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_head { this: np:hasAssertion dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_assertion; np:hasProvenance dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_provenance; np:hasPublicationInfo dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_publicationInfo; a np:Nanopublication . dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_assertion a np:Assertion . dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_provenance a np:Provenance . dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_assertion { miriam-gene:3757 a ncit:C16612 . lld:C1631597 a ncit:C7057 . dgn-gda:DGN8b3eb3b0cf5bf0a0ad74e1393debd05a sio:SIO_000628 miriam-gene:3757, lld:C1631597; a sio:SIO_001121 . } dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_provenance { dgn-np:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_assertion dcterms:description "[Using denaturing high-performance liquid chromatography and DNA sequencing, mutational analysis of 23 RyR2 exons previously implicated in CPVT1, comprehensive analysis of all translated exons in CASQ2 (CPVT2), KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6), and KCNJ2 (Andersen-Tawil syndrome [ATS1], also annotated LQT7), and analysis of 10 ANK2 exons implicated in LQT4 were performed on genomic DNA from 11 unrelated patients (8 females) referred to Mayo Clinic's Sudden Death Genomics Laboratory explicitly for CPVT genetic testing.]. 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:16818210; 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:NP172850.RAfa5T_9R1opLFWOL19nlzD7Y0OhvBgzBSdxUj8HVrR7Q130_publicationInfo { this: dcterms:created "2014-10-02T12:33:33+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" . }