Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- befree-20150227 importedOn "2015-02-27" NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_assertion wasGeneratedBy ECO_0000203 NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_assertion wasDerivedFrom befree-20150227 NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_assertion SIO_000772 24341803 NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_assertion evidence source_evidence_literature NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.
- NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_assertion description "[Exome capture was performed in a boy who developed Leigh disease following a gastroenteritis and had combined PDH and α-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." NP354632.RA9bb5Vd3eKKvyxQzkra4bd5_G2CeHLT5AYDhkSKuBd0w130_provenance.