Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_assertion evidence source_evidence_literature NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_assertion SIO_000772 16151898 NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_assertion wasDerivedFrom befree-20140225 NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_assertion wasGeneratedBy ECO_0000203 NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.