Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion description "[A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion evidence source_evidence_literature NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion SIO_000772 18755274 NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion wasDerivedFrom befree-2016 NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion wasGeneratedBy ECO_0000203 NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_provenance.