Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion description "[Both patients had PDH deficiency caused by a new mutation (G585C) in the PDHA1 gene, which is predicted to replace a highly conserved glycine at codon 195 by alanine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion evidence source_evidence_literature NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion SIO_000772 18504677 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion wasDerivedFrom befree-20140225 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion wasGeneratedBy ECO_0000203 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.