Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion> ?p ?o ?g. }
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- NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_assertion type Assertion NP8043.RAtjS7Ebmwk5a5cITDTZkHXdzgtXHv8sy5uBIWATAnZL0130_head.
- 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.