http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_head http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_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/C0339789 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#DGNe7a1c8dde89892a05d30d7595a97ab02 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3784 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe7a1c8dde89892a05d30d7595a97ab02 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339789 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe7a1c8dde89892a05d30d7595a97ab02 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion http://purl.org/dc/terms/description [These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_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#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10737999 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_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#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_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#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/dc/terms/created 2014-10-02T12:35:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk 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