http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_head
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_assertion
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_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/C0004134
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/DGN070459a75d83ba26fa70a42a16aa1369
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6334
http://rdf.disgenet.org/resource/gda/DGN070459a75d83ba26fa70a42a16aa1369
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0004134
http://rdf.disgenet.org/resource/gda/DGN070459a75d83ba26fa70a42a16aa1369
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_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/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_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/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9562526
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_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/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/dc/terms/created
2015-08-25T14:44:32+02:00
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP683282.RA39JdOqcP2srox4on_LKCJHendXCxh3KeiQqJfd7jeF0
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