Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_assertion> ?p ?o ?g. }
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- NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_assertion type Assertion NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_head.
- NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_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." NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_provenance.
- NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_assertion evidence source_evidence_literature NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_provenance.
- NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_assertion SIO_000772 17027311 NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_provenance.
- NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_assertion wasDerivedFrom befree-20140225 NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_provenance.
- NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_assertion wasGeneratedBy ECO_0000203 NP544383.RA9tLFjCr6NodJWeO2LqKoYLenhmayEFeQd1D1mO1rbOQ130_provenance.