Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion description "[Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion evidence source_evidence_curated NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion SIO_000772 25351951 NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion wasDerivedFrom uniprot-2016 NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion wasGeneratedBy ECO_0000218 NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_provenance.