Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_assertion description "[Patients with congenital presynaptic failure, including two patients with episodic ataxia type 2 (EA-2) due to CACNA1A mutations, were studied with muscle biopsy, microelectrode studies, electron microscopy, DNA amplification, and sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_assertion evidence source_evidence_literature NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_assertion SIO_000772 14592859 NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_assertion wasDerivedFrom befree-2016 NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_assertion wasGeneratedBy ECO_0000203 NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP418873.RAB4VTKw4i4KLm-mwELkd10-cJKXf4sE2lkTmciBNrM5Y130_provenance.