http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#head http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#assertion http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#provenance http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#assertion http://rdf.disgenet.org/resource/gda/DGN4c3c685b3b700805cb0df0dcc570efbc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6334 http://rdf.disgenet.org/resource/gda/DGN4c3c685b3b700805cb0df0dcc570efbc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393593 http://rdf.disgenet.org/resource/gda/DGN4c3c685b3b700805cb0df0dcc570efbc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#provenance http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#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/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#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/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9562526 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#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/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/dc/terms/created 2017-10-17T13:16:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP926376.RAul_rJJe7aVskh2um6QqROtP4zxdXwHnmLrrzyxOwa_8 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