Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP289697.RAYBZ9OK7q5YQRnweE72-6jgBVOoZ4HUp6cypyzNK_F3U#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 24341803 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Exome capture was performed in a boy who developed Leigh disease following a gastroenteritis and had combined PDH and ?-KGDH deficiency with a unique amino acid profile that partly ressembled E3 subunit (dihydrolipoamide dehydrogenase / DLD) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.