Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_assertion description "[NEU1 mutations were detected in 3 siblings of each family with prominent cortical myoclonus presenting in the third decade of life and having a mild and slowly progressive course.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_assertion evidence source_evidence_literature NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_assertion SIO_000772 24808020 NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_assertion wasDerivedFrom befree-2016 NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_assertion wasGeneratedBy ECO_0000203 NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1180494.RAt7KksCXJIUpQQBIWMuLhL52XqHFy03HYcRKS5FLtSlk130_provenance.