Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_assertion description "[These include the hyperinsulinism/hyperammonemia syndrome caused by dominant activating mutations of GLUD1 which interfere with inhibitory regulation by GTP and hyperinsulinism due to recessive deficiency of short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD, encoded by HADH1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_assertion evidence source_evidence_literature NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_assertion SIO_000772 21130127 NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_assertion wasDerivedFrom befree-20150227 NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_assertion wasGeneratedBy ECO_0000203 NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP429048.RAeU2DeSrp0-xaVseBK-2Jag-DS1U1nWgwd27Qe6CDPPI130_provenance.