Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_assertion description "[Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_assertion evidence source_evidence_literature NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_assertion SIO_000772 17215107 NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_assertion wasDerivedFrom befree-2016 NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_assertion wasGeneratedBy ECO_0000203 NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.
- befree-2016 importedOn "2016-02-19" NP588151.RAmX1AjI4IFv1nTWlEOO3TmdzBgIIfUiVJEBfMlz8VT7U130_provenance.