Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_assertion description "[The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_assertion evidence source_evidence_literature NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_assertion SIO_000772 7881422 NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_assertion wasDerivedFrom befree-2016 NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_assertion wasGeneratedBy ECO_0000203 NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP1324687.RAu0rtkWfBneKMGkAh_HssFxz0DAEAwKj3dZ0YB50MV-Y130_provenance.