Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion> ?p ?o ?g. }
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- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion type Assertion NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_head.
- 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.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion evidence source_evidence_curated NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion SIO_000772 17458872 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion wasDerivedFrom uniprot-20130724 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.
- NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_assertion wasGeneratedBy ECO_0000218 NP140.RAPA-mwmRkTghMRpT3cGALss2zoNa4C8w68KjPIMFZjlo130_provenance.