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- source_evidence_literature type ECO_0000212 NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP575020.RAXYgraOF0HgcaybI13l_j7S2nC5S_nvblRMXPfpDDxDk130_provenance.