dgn-np:NP600413.RAk1WrQgcy8FeF71QMLQgI4fnZyqk703Dy5P2FOePD7Sw130_provenance {
dgn-np:NP600413.RAk1WrQgcy8FeF71QMLQgI4fnZyqk703Dy5P2FOePD7Sw130_assertion dcterms:description "[We have recently shown that the molecular defect in all Finnish aspartylglycosaminuria patients examined to date consists of two single base changes in the heavy chain of glycoasparaginase (Mononen, I., Heisterkamp, N., Kaartinen, V., Williams, J. C., Yates, J. R., III, Griffin, P. R., Hood, L. E., and Groffen, J.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_literature ;
sio:SIO_000772 miriam-pubmed:1737774 ;
prov:wasDerivedFrom dgn-void:befree-2016 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-2016 pav:importedOn "2016-02-19"^^
xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212 ;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}