http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_head http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_provenance http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://identifiers.org/ncbigene/3784 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1563715 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN03f80ded2660faeb7f13712af08e8017 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3784 http://rdf.disgenet.org/gene-disease-association.ttl#DGN03f80ded2660faeb7f13712af08e8017 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1563715 http://rdf.disgenet.org/gene-disease-association.ttl#DGN03f80ded2660faeb7f13712af08e8017 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_provenance http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16818210 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/dc/terms/created 2014-10-02T12:39:13+02:00 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP713686.RAYB1j-5xTmW9KIgd8jb5BXmNi-dFN9sfIqT8nNmEiT1g http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0