Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion> ?p ?o ?g. }
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- NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_assertion type Assertion NP690272.RAfuvk9uwqqUi_Q5lybcWSRiA9bSMrxq4GdT3ZE8566FQ130_head.
- 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.