Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP534545.RALh9CN6-J9xkU3AUW69B_IngycjrK2EIpB8MXzISGX4Y#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 10466419 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.