http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_head http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://identifiers.org/ncbigene/6334 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/C0030552 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/DGN77785eebda16666f681f7e93ed176c97 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6334 http://rdf.disgenet.org/resource/gda/DGN77785eebda16666f681f7e93ed176c97 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030552 http://rdf.disgenet.org/resource/gda/DGN77785eebda16666f681f7e93ed176c97 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_provenance http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_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/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9562526 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/dc/terms/created 2015-08-25T14:44:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP683333.RA3KsQHhf3zRHg7dxYWR7wC96Y2PSDbj7R3T7pvJt03_0 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0