Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1326773.RA3a93v7qI5nl8PPRFBX59DCPxxFGzJKTqntkrzA4_k3A#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- assertion description "[A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia.and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 14534929 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- LHGDN importedOn "2009-03-31" provenance.