Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_assertion> ?p ?o ?g. }
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- NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_assertion type Assertion NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_head.
- NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_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." NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_provenance.
- NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_assertion evidence source_evidence_literature NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_provenance.
- NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_assertion SIO_000772 17049295 NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_provenance.
- NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_assertion wasDerivedFrom befree-20150227 NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_provenance.
- NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_assertion wasGeneratedBy ECO_0000203 NP914827.RAeHb7nJHxgB75JyRX2j_p9SK8sQSWjTghF0VPVXsLFiI130_provenance.