Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_assertion description "[We describe the first case of severe persistent hyperinsulinemic hypoglycemia due to a `de novo` mutation in GCK (Y214C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_assertion evidence source_evidence_literature NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_assertion SIO_000772 15277402 NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_assertion wasDerivedFrom befree-20140225 NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_assertion wasGeneratedBy ECO_0000203 NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP343247.RAlaArXuaXG0IcXU0_rVnC1GqFmUkA-hEPCopT4Xds0lg130_provenance.