http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#head
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#assertion
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#provenance
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#assertion
http://rdf.disgenet.org/resource/gda/DGN7770fff7030541cbb6cad3210da4593f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6334
http://rdf.disgenet.org/resource/gda/DGN7770fff7030541cbb6cad3210da4593f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0151786
http://rdf.disgenet.org/resource/gda/DGN7770fff7030541cbb6cad3210da4593f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#provenance
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#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/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#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/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9562526
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#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/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/dc/terms/created
2017-10-17T13:16:05+02:00
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP926343.RAa51gDjh8gdlQhJ-T9jpVyul8bjtyHQQWmm8lSc9tCzM
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