Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion wasGeneratedBy ECO_0000218 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion wasDerivedFrom uniprot-20130724 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion SIO_000772 17458872 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion evidence source_evidence_curated NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_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." NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.