Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP516850.RA8AnhFX_Pyg3dVnLygUxdpEcXlcsJ7cNHUfWqd0rmP-0#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23804752 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Lesch-Nyhan syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.