Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_assertion description "[These results explain why this patient with a mutation in exon 3II of the ACOX1 gene, but with normal expression of exon 3I, was indistinguishable from other patients with peroxisomal acyl-CoA oxidase deficiency with respect to his clinical presentation and the biochemical abnormalities in his fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_assertion evidence source_evidence_curated NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_assertion SIO_000772 17458872 NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_assertion wasDerivedFrom uniprot-2016 NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_assertion wasGeneratedBy ECO_0000218 NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4970.RArva80HOCFzAt5EsdaM0LZhfVaM2qjzsG4vwiZtz8vbE130_provenance.