Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_assertion description "[Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_assertion evidence source_evidence_literature NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_assertion SIO_000772 9806543 NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_assertion wasDerivedFrom befree-20150227 NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_assertion wasGeneratedBy ECO_0000203 NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP337103.RAf9PTF4uK4XqygxCv_WGlbMO4Cz6b66dPFOvtFQpQCoA130_provenance.