Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_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." NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_assertion evidence source_evidence_curated NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_assertion SIO_000772 23561848 NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_assertion wasDerivedFrom uniprot-20150221 NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_assertion wasGeneratedBy ECO_0000218 NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2909.RAPffW5j3lWbk2_V3_1vDR1EVU5Hcs3UIH5XyiBC3sfPU130_provenance.