Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion description "[Inherited mutations of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8), give rise to Lesch-Nyhan syndrome or HPRT-related gout.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion evidence source_evidence_literature NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion SIO_000772 17027311 NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion wasDerivedFrom befree-20140225 NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion wasGeneratedBy ECO_0000203 NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_provenance.