Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion> ?p ?o ?g. }
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- NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion type Assertion NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_head.
- NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion description "[The human R482X CACNB4 mutation, responsible for a form of juvenile myoclonic epilepsy, prevents association with Ppp2r5 and nuclear targeting of the complex by altering Cacnb4 conformation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_provenance.
- NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion evidence source_evidence_literature NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_provenance.
- NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion SIO_000772 22892567 NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_provenance.
- NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion wasDerivedFrom befree-20140225 NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_provenance.
- NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_assertion wasGeneratedBy ECO_0000203 NP913967.RAj-aFoFLn940PZd_UnCDOzm02P_ag56koAPPFtE3gVME130_provenance.