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- NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_assertion type Assertion NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_head.
- NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_assertion description "[Lesch-Nyhan syndrome is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_provenance.
- NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_assertion evidence source_evidence_literature NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_provenance.
- NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_assertion SIO_000772 21331772 NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_provenance.
- NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_assertion wasDerivedFrom befree-20140225 NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_provenance.
- NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_assertion wasGeneratedBy ECO_0000203 NP545252.RAYmRoYhrXuiEnGvqnHt42lp8Cmqx7cegdJwUYEUKqUKI130_provenance.