Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_assertion> ?p ?o ?g. }
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- NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_assertion type Assertion NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_head.
- NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_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." NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_provenance.
- NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_assertion evidence source_evidence_literature NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_provenance.
- NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_assertion SIO_000772 17027311 NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_provenance.
- NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_assertion wasDerivedFrom befree-2016 NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_provenance.
- NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_assertion wasGeneratedBy ECO_0000203 NP573350.RAjegJ4EVOqE_M4M9mdKX5VtSlv3EMC_2MVkWKX_xEoqw130_provenance.