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- source_evidence_literature type ECO_0000212 NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_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." NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_assertion evidence source_evidence_literature NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_assertion SIO_000772 24341803 NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_assertion wasDerivedFrom befree-2016 NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_assertion wasGeneratedBy ECO_0000203 NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1137244.RA_3S657a4fvdygle14_-5atWebyNo5YEL9B-F-C7M6wc130_provenance.