Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_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." NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_assertion evidence source_evidence_literature NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_assertion SIO_000772 11214910 NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_assertion wasDerivedFrom befree-20140225 NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_assertion wasGeneratedBy ECO_0000203 NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP412700.RAx-BlLUj291hcS-fTur1v_bQQeMF_lOpqRZt01lTNBhE130_provenance.