Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_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." NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_assertion evidence source_evidence_literature NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_assertion SIO_000772 16671097 NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_assertion wasDerivedFrom befree-20140225 NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_assertion wasGeneratedBy ECO_0000203 NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.
- befree-20140225 importedOn "2014-02-25" NP853686.RAaM9v1flrwmXbkzKP9UumezyFFcvghQootfFCo9eR71w130_provenance.