Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP662694.RATnr4wO4XULy3YQNqmtXoXdGXtIpllv2XGa4fV1jPOV8#assertion> ?p ?o ?g. }
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- assertion description "[There are seven well-known lysosomal storage diseases that produce angiokeratoma corporis diffusum clinically. beta-Mannosidosis (MANB1; OMIM248510), first reported in humans in 1986, is a rare hereditary lysosomal storage disease caused by a deficiency of the enzyme beta-mannosidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 12890191 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.