Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_assertion description "[Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_assertion evidence source_evidence_curated NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_assertion SIO_000772 22022284 NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_assertion wasDerivedFrom uniprot-20130724 NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_assertion wasGeneratedBy ECO_0000218 NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP233.RAEEp_rUOOQElEGWKVMoWLpongYFNGDRw4t6iynKRo4vM130_provenance.