Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_assertion> ?p ?o ?g. }
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- NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_assertion type Assertion NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_head.
- NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_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." NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_provenance.
- NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_assertion evidence source_evidence_literature NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_provenance.
- NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_assertion SIO_000772 17458872 NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_provenance.
- NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_assertion wasDerivedFrom befree-20140225 NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_provenance.
- NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_assertion wasGeneratedBy ECO_0000203 NP721864.RAVvv-VYNUQZc_0Pc6aCWO94edlLhchH9aVjtI_Twy1Qw130_provenance.