Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_assertion> ?p ?o ?g. }
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- NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_assertion type Assertion NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_head.
- NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_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." NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_provenance.
- NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_assertion evidence source_evidence_literature NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_provenance.
- NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_assertion SIO_000772 17049295 NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_provenance.
- NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_assertion wasDerivedFrom befree-20140225 NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_provenance.
- NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_assertion wasGeneratedBy ECO_0000203 NP288046.RA6g76Sp7lTZsZBzaQ0pMZ2C_hcJSITivnuOi_prZY8yo130_provenance.