http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#head
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#assertion
http://rdf.disgenet.org/resource/gda/DGNbb096aa75397f72bf45368dc040dcbf3
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6323
http://rdf.disgenet.org/resource/gda/DGNbb096aa75397f72bf45368dc040dcbf3
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0751122
http://rdf.disgenet.org/resource/gda/DGNbb096aa75397f72bf45368dc040dcbf3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#assertion
http://purl.org/dc/terms/description
[In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#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/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12773292
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#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/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/dc/terms/created
2017-10-17T13:16:04+02:00
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP924312.RA4JmYEO9r9uxB9Ztsd3AG7IK0JwfWn_Cv7uOIAp7TpbQ
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