Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion> ?p ?o ?g. }
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- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion type Assertion NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_head.
- 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.