Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_assertion> ?p ?o ?g. }
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- NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_assertion type Assertion NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_head.
- NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_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." NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_provenance.
- NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_assertion evidence source_evidence_literature NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_provenance.
- NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_assertion SIO_000772 16302874 NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_provenance.
- NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_assertion wasDerivedFrom befree-20140225 NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_provenance.
- NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_assertion wasGeneratedBy ECO_0000203 NP796891.RAtDKIayzHErIarGEqz_SQNiaWEX7NCzy26lm2jZ5ZHrA130_provenance.