Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_assertion description "[An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_assertion evidence source_evidence_literature NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_assertion SIO_000772 16671097 NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_assertion wasDerivedFrom befree-20150227 NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_assertion wasGeneratedBy ECO_0000203 NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP617210.RA0v5LCpfQgk7RFEmUsKaxCvi5Zy-EwgUFirLPX1pDsqA130_provenance.