http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#head http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#assertion http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#provenance http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#assertion http://rdf.disgenet.org/resource/gda/DGN5a3488c8de7a0012bd9cfc142431e369 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6323 http://rdf.disgenet.org/resource/gda/DGN5a3488c8de7a0012bd9cfc142431e369 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751122 http://rdf.disgenet.org/resource/gda/DGN5a3488c8de7a0012bd9cfc142431e369 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#provenance http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#assertion http://purl.org/dc/terms/description [We screened for mutations of SCN1A, SCN2A and GABRG2 (the gene encoding gamma2 subunit of the GABA(A) receptor) in 59 patients with Dravet syndrome and found 29 SCN1A mutations and three missense SCN2A mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#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/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19783390 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#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/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/dc/terms/created 2017-10-17T13:16:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP924283.RAn_LVP_41XEzElkPY2YGozB7ix89BP0Jf02argGgXefQ 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