Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1326601.RArhXy96v09zkIrs1RwnaKjcacq7yk7gwO2tg22fVpC7M#assertion> ?p ?o ?g. }
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- assertion description "[Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17049295 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.