Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion> ?p ?o ?g. }
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- NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion type Assertion NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_head.
- NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion wasGeneratedBy ECO_0000203 NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_provenance.
- NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion wasDerivedFrom befree-20140225 NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_provenance.
- NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion SIO_000772 15300847 NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_provenance.
- NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion evidence source_evidence_literature NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_provenance.
- NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_assertion description "[Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase (IDUA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP500101.RAU6tYYa4xyEMBO4Hp8lqFfxKso6bHGFlmra7hBG1G0nA130_provenance.