http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_head http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_assertion http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_provenance http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_assertion http://identifiers.org/ncbigene/6262 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/C0349788 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/DGNec63e03af31dd0fd5b68d061fa692398 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6262 http://rdf.disgenet.org/resource/gda/DGNec63e03af31dd0fd5b68d061fa692398 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0349788 http://rdf.disgenet.org/resource/gda/DGNec63e03af31dd0fd5b68d061fa692398 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_provenance http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_assertion http://purl.org/dc/terms/description [Several mutations in the genes encoding RyR1 and RyR2 have been identified in autosomal dominant diseases of skeletal and cardiac muscle, such as malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_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/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15336972 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_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/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/dc/terms/created 2016-05-13T12:45:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP457892.RAs2whgg-ph5FQphhi_J8xEzO-rBNDIJtMZjLcIdz4gCI 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