Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_assertion type Assertion NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_head.
- NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_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." NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_assertion evidence source_evidence_literature NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_assertion SIO_000772 17049295 NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_assertion wasDerivedFrom befree-2016 NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_assertion wasGeneratedBy ECO_0000203 NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.