Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion> ?p ?o ?g. }
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- NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion type Assertion NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_head.
- NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion description "[De novo missense mutations in STXBP1 were recently reported in patients with Ohtahara syndrome, a form of encephalopathy with severe early-onset epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_provenance.
- NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion evidence source_evidence_literature NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_provenance.
- NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion SIO_000772 21364700 NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_provenance.
- NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion wasDerivedFrom befree-20140225 NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_provenance.
- NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_assertion wasGeneratedBy ECO_0000203 NP875959.RAAJvxGDzMq1-Hh9GjoQCNEWZ8behCoO2n6YrV7vvzTRU130_provenance.