Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP447854.RA1yYx04MzbOiKk--YSP_fh0SFUp4AvDg0zuU1OoE3Jo4#assertion> ?p ?o ?g. }
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- assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11214910 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.