http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#head
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#assertion
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#provenance
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#assertion
http://rdf.disgenet.org/resource/gda/DGN1767d242ca0ad7f39dfef086a37ee3a4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6323
http://rdf.disgenet.org/resource/gda/DGN1767d242ca0ad7f39dfef086a37ee3a4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0026650
http://rdf.disgenet.org/resource/gda/DGN1767d242ca0ad7f39dfef086a37ee3a4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#provenance
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#assertion
http://purl.org/dc/terms/description
[This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A-associated epileptic encephalopathy.[Published with video sequences].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#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/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24776920
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#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/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/dc/terms/created
2017-10-17T13:16:04+02:00
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP923596.RAMqIKCzNYJNxGIOH6BhOIGwU1bDEy_ubodQ7s2luth8M
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