Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion> ?p ?o ?g. }
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- NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion type Assertion NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_head.
- NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion wasGeneratedBy ECO_0000203 NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_provenance.
- NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion wasDerivedFrom befree-20150227 NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_provenance.
- NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion SIO_000772 19204046 NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_provenance.
- NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion evidence source_evidence_literature NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_provenance.
- NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_assertion description "[A gain-of-function (E/D) mutation in the pore-forming alpha subunit (Slo1) of the BK channel was recently identified and is linked to human neurological diseases of coexistent generalized epilepsy and paroxysmal dyskinesia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522973.RATpMW1WuLlJqUPSdMS8BJBSetPOix9z8r2bdHgvRtkuY130_provenance.