Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion> ?p ?o ?g. }
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- NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_assertion type Assertion NP6130.RACWfCETiC71Nl52HW8ldtP1WQRisXmXk1klX4yM1NFfo130_head.
- 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.