Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion> ?p ?o ?g. }
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- NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion type Assertion NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_head.
- NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion description "[Globoid cell leukodystrophy (Krabbe disease) is a severe leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene leading to extremely low (less than 5% of normal activity) GALC activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_provenance.
- NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion evidence source_evidence_literature NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_provenance.
- NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion SIO_000772 11461188 NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_provenance.
- NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion wasDerivedFrom befree-20140225 NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_provenance.
- NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_assertion wasGeneratedBy ECO_0000203 NP868784.RAd3kTnAxEUSLzf73dHPia3Fr78PDIPHWlT5pGGGihwNE130_provenance.