Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion> ?p ?o ?g. }
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- NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion type Assertion NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_head.
- NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion wasGeneratedBy ECO_0000203 NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_provenance.
- NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion wasDerivedFrom befree-2016 NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_provenance.
- NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion SIO_000772 21037085 NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_provenance.
- NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion evidence source_evidence_literature NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_provenance.
- NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_assertion description "[Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) is a congenital deficiency of α-L-iduronidase, leading to lysosomal storage of glycosaminoglycans that is ultimately fatal following an insidious onset after birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849353.RAANqz6GzShLy5dZ0BAiyhXDPl2357VkgKaf3tA_RreH8130_provenance.