Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_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." NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_assertion evidence source_evidence_literature NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_assertion SIO_000772 23253615 NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_assertion wasDerivedFrom befree-20140225 NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_assertion wasGeneratedBy ECO_0000203 NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP222588.RAjfOElM9htVQ3rETgszWpx49qSZe-gFch5QT5NKQrd2k130_provenance.