Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_assertion description "[Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_assertion evidence source_evidence_literature NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_assertion SIO_000772 25488668 NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_assertion wasDerivedFrom befree-2016 NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_assertion wasGeneratedBy ECO_0000203 NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.
- befree-2016 importedOn "2016-02-19" NP1246290.RAs13j6onWHzEwr1lpHntxJ8hLJlnP5ld2Ys-zTOZvc7I130_provenance.