Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion description "[A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion evidence source_evidence_curated NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion SIO_000772 15953877 NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion wasDerivedFrom uniprot-20130724 NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion wasGeneratedBy ECO_0000218 NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_provenance.