Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion> ?p ?o ?g. }
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- NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion type Assertion NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_head.
- NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion description "[Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_provenance.
- NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion evidence source_evidence_literature NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_provenance.
- NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion SIO_000772 19690084 NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_provenance.
- NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion wasDerivedFrom befree-20140225 NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_provenance.
- NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_assertion wasGeneratedBy ECO_0000203 NP565564.RAO42UtdNZFiog7EeZmT0mUFcOalPBQoGybCOHYqPdwoA130_provenance.