Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion> ?p ?o ?g. }
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- NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion type Assertion NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_head.
- NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion wasGeneratedBy ECO_0000203 NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_provenance.
- NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion wasDerivedFrom befree-2016 NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_provenance.
- NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion SIO_000772 10466419 NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_provenance.
- NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion evidence source_evidence_literature NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_provenance.
- NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_assertion description "[alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP261522.RA89RXKu8lwQ2hY6dI3NuDduTcdo3BPmVQg4gGmaTNIBM130_provenance.