Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion> ?p ?o ?g. }
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- NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion type Assertion NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_head.
- NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion description "[Recent evidence suggests that mutations in HADH cause HH that is precipitated by protein in a similar manner to the hyperinsulinism/hyperammonemia (HI/HA) syndrome, which is caused by mutations in the GLUD1 gene, encoding the enzyme glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_provenance.
- NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion evidence source_evidence_literature NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_provenance.
- NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion SIO_000772 23253615 NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_provenance.
- NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion wasDerivedFrom befree-20150227 NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_provenance.
- NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_assertion wasGeneratedBy ECO_0000203 NP429032.RArMTnfDyoPJ4mGfvJESTBMxCkbwxt42FUnIWiZ56uM58130_provenance.