Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion type Assertion NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_head.
- NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion description "[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_provenance.
- NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion evidence source_evidence_literature NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_provenance.
- NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion SIO_000772 19464834 NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_provenance.
- NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion wasDerivedFrom befree-20140225 NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_provenance.
- NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_assertion wasGeneratedBy ECO_0000203 NP578698.RAfUouNJm67N6RwwDrqRkubVwCfRfWg5E0VSK1sG8aRSs130_provenance.