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- source_evidence_literature type ECO_0000212 NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP433895.RACg5XXioFvtAWlLyOwAdgHQruQmf4MidVJ3Tl00mAkag130_provenance.