Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP946814.RA9Zu0nii3MnHApHEeW02dCvXBwKN_56moEi9g2fHHxlA#assertion> ?p ?o ?g. }
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- assertion description "[Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 10980529 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.