Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_assertion description "[Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_assertion evidence source_evidence_curated NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_assertion SIO_000772 23561848 NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_assertion wasDerivedFrom uniprot-2016 NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_assertion wasGeneratedBy ECO_0000218 NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7437.RAPP9BLWUtzkL1LCMNfFNJUJQ-KzWnFoFjM48DqaWNBSw130_provenance.