Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion> ?p ?o ?g. }
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- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion type Assertion NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_head.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion description "[Dravet syndrome is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment, thus well illustrating the concept of epileptic encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion evidence source_evidence_literature NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion SIO_000772 24571113 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion wasDerivedFrom befree-2016 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion wasGeneratedBy ECO_0000203 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.