Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_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." NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_assertion evidence source_evidence_literature NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_assertion SIO_000772 7881422 NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_assertion wasDerivedFrom befree-2016 NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_assertion wasGeneratedBy ECO_0000203 NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1324686.RAs9mNX6nHYsOPD9LRS8rjNb-hVx9Aglr1U52e1ax51FM130_provenance.