http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#head http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#assertion http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#provenance http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#assertion http://rdf.disgenet.org/resource/gda/DGN27d9ee94476ff9151b183377a2041a1b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6334 http://rdf.disgenet.org/resource/gda/DGN27d9ee94476ff9151b183377a2041a1b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030552 http://rdf.disgenet.org/resource/gda/DGN27d9ee94476ff9151b183377a2041a1b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#provenance http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#assertion http://purl.org/dc/terms/description [The phenotypes of four allelic mutations identified in the sodium channel gene Scn8a range from ataxia and muscle weakness through severe dystonia and progressive paralysis, indicating that human mutations in this gene could be associated with a variety of clinical syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#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/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9562526 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#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/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/dc/terms/created 2017-10-17T13:16:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP926307.RA5MJJMrKHwkJLGhuBbFn0OuaBSmQkJqCEP1QnvTXo0_4 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