http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#head http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#assertion http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#provenance http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#assertion http://rdf.disgenet.org/resource/gda/DGN92d8dff751b7f2c9af20c82924ceaef8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6262 http://rdf.disgenet.org/resource/gda/DGN92d8dff751b7f2c9af20c82924ceaef8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1631597 http://rdf.disgenet.org/resource/gda/DGN92d8dff751b7f2c9af20c82924ceaef8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#provenance http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#assertion http://purl.org/dc/terms/description [One-hundred sixteen relatives carrying the Ryr2 mutation from 15 families who were identified by cascade screening of the Ryr2 mutation causing CPVT in the proband were clinically characterized, including 61 relatives from 1 family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#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/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22787013 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#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/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/dc/terms/created 2017-10-17T13:16:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916714.RAXhNSxUq84OonVsMGF6Ppdfg7OM6CkpfW0O_xCYF4dVM 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