Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_assertion evidence source_evidence_literature NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_assertion SIO_000772 11214910 NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_assertion wasDerivedFrom befree-20140225 NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_assertion wasGeneratedBy ECO_0000203 NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP938231.RAYKzmh9Ey2m2v2fhu29WimrB60pqSFpNtkKM_jWQoDgo130_provenance.