Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_assertion> ?p ?o ?g. }
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- NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_assertion type Assertion NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_head.
- NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_assertion wasGeneratedBy ECO_0000203 NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_provenance.
- NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_assertion wasDerivedFrom befree-2016 NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_provenance.
- NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_assertion SIO_000772 10466419 NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_provenance.
- NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_assertion evidence source_evidence_literature NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_provenance.
- NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_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." NP261524.RA_O1LGzEgdjkt5bs785mjHtWEP3Rt6tLwe5JqJT6aeGU130_provenance.