Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1326773.RA3a93v7qI5nl8PPRFBX59DCPxxFGzJKTqntkrzA4_k3A#assertion> ?p ?o ?g. }
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- 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.