Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP992055.RAx5mzVNmEPut1XRp7wFgIum9uWdpqZApT87s9dCEdffA#assertion> ?p ?o ?g. }
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- assertion description "[Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20493457 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.