http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_head
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://identifiers.org/ncbigene/3785
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/C1852581
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/DGNfcd31590c256e5900e0e246209f6858f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3785
http://rdf.disgenet.org/resource/gda/DGNfcd31590c256e5900e0e246209f6858f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1852581
http://rdf.disgenet.org/resource/gda/DGNfcd31590c256e5900e0e246209f6858f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://purl.org/dc/terms/description
[Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25524373
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/dc/terms/created
2016-05-13T12:51:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1249445.RAb6aUVRCBs3sheIO4uCc3BLiLMVJ9lauUow9GGXNwB3I
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0