Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion> ?p ?o ?g. }
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- NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_assertion type Assertion NP548868.RAfTequwUh2gyZN7fisbJHXuhN-Ohk3kkL9s4Ja4fbVwM130_head.
- 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.