Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion> ?p ?o ?g. }
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- NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion type Assertion NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_head.
- NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion wasGeneratedBy ECO_0000203 NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_provenance.
- NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion wasDerivedFrom lhgdn-20090331 NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_provenance.
- NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion SIO_000772 18413471 NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_provenance.
- NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion evidence source_evidence_literature NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_provenance.
- NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_assertion description "[No large deletions at the SCN1A locus were found in any of the patients/different point mutations were identified in 12 patients: 10 with SMEI, 1 with generalized epilepsy with febrile seizures plus, and 1 with cryptogenic focal epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP236727.RA1bUEKf6Z3CxvEewf2pYQXYnO2C3fc36eiUoURrsShIA130_provenance.