http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#head http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#assertion http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#provenance http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#assertion http://rdf.disgenet.org/resource/gda/DGN15adb9871b0e170e9e584173d0eb5528 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9992 http://rdf.disgenet.org/resource/gda/DGN15adb9871b0e170e9e584173d0eb5528 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1563715 http://rdf.disgenet.org/resource/gda/DGN15adb9871b0e170e9e584173d0eb5528 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#provenance http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#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/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16818210 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/dc/terms/created 2017-10-17T13:17:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1202674.RAaEXDsVCzLivLlygU1ZMTKro4LqU6jPK550td4KFLBls http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0