Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_assertion description "[proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca (v) 2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_assertion evidence source_evidence_literature NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_assertion SIO_000772 18755274 NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_assertion wasDerivedFrom lhgdn-20090331 NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_assertion wasGeneratedBy ECO_0000203 NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP203590.RAl2HT0tXy3LPcZ_wF_H1EI9rgT2cCrJYV1os5AnQBjCY130_provenance.