Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion> ?p ?o ?g. }
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- NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion type Assertion NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_head.
- NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion description "[Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_provenance.
- NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion evidence source_evidence_literature NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_provenance.
- NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion SIO_000772 24341803 NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_provenance.
- NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion wasDerivedFrom befree-20150227 NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_provenance.
- NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_assertion wasGeneratedBy ECO_0000203 NP601974.RA8jII4YS24ldCe89CX8Kn3hWt7JFEOCc3iScRiSaTvg0130_provenance.