Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion> ?p ?o ?g. }
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- NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion type Assertion NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_head.
- NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion description "[Three cases with deletion of the whole sodium channel gene cluster (SCN3A, SCN2A, SCN1A, SCN9A, and SCN7A) exhibited a complex epilepsy phenotype that was atypical for Dravet syndrome and suggestive of migrating partial seizures of infancy: early seizure onset (before 2 months of age), severe developmental delay from seizure onset, multifocal interictal spikes, polymorphous focal seizures, and acquired microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_provenance.
- NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion evidence source_evidence_literature NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_provenance.
- NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion SIO_000772 25524840 NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_provenance.
- NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion wasDerivedFrom befree-2016 NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_provenance.
- NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_assertion wasGeneratedBy ECO_0000203 NP1249532.RA249EqGDGnDZEFqV2Fo4tzn3WTo4Q-813Vpnx75BTcNQ130_provenance.