Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion> ?p ?o ?g. }
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- NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion type Assertion NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_head.
- NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion description "[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance.
- NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion evidence source_evidence_literature NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance.
- NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion SIO_000772 16302874 NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance.
- NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion wasDerivedFrom befree-2016 NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance.
- NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_assertion wasGeneratedBy ECO_0000203 NP523556.RAimbnwEgxuObC3B4akm214fslE7qsMeRRji3e33bkFi0130_provenance.