http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_head http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_provenance http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://identifiers.org/ncbigene/3757 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/resource/gda/DGNeff83ac4d6752496ee336041596ab00e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3757 http://rdf.disgenet.org/resource/gda/DGNeff83ac4d6752496ee336041596ab00e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1563715 http://rdf.disgenet.org/resource/gda/DGNeff83ac4d6752496ee336041596ab00e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_provenance http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_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/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16818210 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/dc/terms/created 2016-05-13T12:45:57+02:00 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP557771.RAAxmynpdW7mdJyU0J8KG07iWRHgEmlP_pTP4ruFEVdR8 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0