Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion evidence source_evidence_literature NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion SIO_000772 11409433 NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion wasDerivedFrom befree-20140225 NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion wasGeneratedBy ECO_0000203 NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.