Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion> ?p ?o ?g. }
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- NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion type Assertion NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_head.
- NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion description "[STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_provenance.
- NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion evidence source_evidence_literature NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_provenance.
- NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion SIO_000772 24095819 NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_provenance.
- NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion wasDerivedFrom befree-20150227 NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_provenance.
- NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_assertion wasGeneratedBy ECO_0000203 NP719986.RAC8F-2Mnf4hvffnSK2YiQXGMZ6iFVhdqzmbiN-RtP_1Q130_provenance.