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- source_evidence_literature type ECO_0000212 NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_assertion description "[This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_assertion evidence source_evidence_literature NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_assertion SIO_000772 23768507 NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_assertion wasDerivedFrom befree-20150227 NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_assertion wasGeneratedBy ECO_0000203 NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP963621.RA_072bH2r-dJyfpngo8e1SujAec4ifyKau-anRldSWVE130_provenance.