Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_assertion> ?p ?o ?g. }
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- NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_assertion type Assertion NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_head.
- NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_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." NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_provenance.
- NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_assertion evidence source_evidence_literature NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_provenance.
- NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_assertion SIO_000772 11214910 NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_provenance.
- NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_assertion wasDerivedFrom befree-2016 NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_provenance.
- NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_assertion wasGeneratedBy ECO_0000203 NP308931.RA6-IPcmyY81NytZTv5vOGcW4ecZBcGmX5GVgtr3AK2xQ130_provenance.