Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP947485.RAD1EMyJJA5agIHDpNjIqV3YghZ8Xy2sL-5cl7_CI9dgg#assertion> ?p ?o ?g. }
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- assertion description "[Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11810292 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.