Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_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." NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_assertion evidence source_evidence_curated NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_assertion SIO_000772 17458872 NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_assertion wasDerivedFrom uniprot-20150221 NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_assertion wasGeneratedBy ECO_0000218 NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3638.RAhkpJVVLAATiNy7YrVEBzScbNQXCjRVGqAPO--Akkh3k130_provenance.