Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8748.RADRXJZp3Jt0kVH5KZ38jlCjeEbAKl6SoUg-0Q3wukgXU#provenance>. }
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- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- UNIPROT importedOn "2017-01-25" provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 1715688 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Immunochemical analyses showed that mitochondrial acetoacetyl-CoA thiolase (T2) biosynthesized in the patient's fibroblasts (GK06) was unstable and that the parents and brother were obligatory carriers of 3KTD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.