Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_assertion> ?p ?o ?g. }
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- NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_assertion type Assertion NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_head.
- NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_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." NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_provenance.
- NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_assertion evidence source_evidence_literature NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_provenance.
- NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_assertion SIO_000772 16302874 NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_provenance.
- NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_assertion wasDerivedFrom befree-2016 NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_provenance.
- NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_assertion wasGeneratedBy ECO_0000203 NP523553.RAmEvnca4P-Ta-o97Y2n3EaComF-HxOvXO9qu-fFBxerY130_provenance.