Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_assertion type Assertion NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_head.
- NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_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." NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_assertion evidence source_evidence_literature NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_assertion SIO_000772 23253615 NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_assertion wasDerivedFrom befree-20150227 NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_assertion wasGeneratedBy ECO_0000203 NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.