Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion> ?p ?o ?g. }
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- NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion type Assertion NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_head.
- NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion description "[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." NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_provenance.
- NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion evidence source_evidence_literature NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_provenance.
- NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion SIO_000772 12890191 NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_provenance.
- NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion wasDerivedFrom befree-20140225 NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_provenance.
- NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_assertion wasGeneratedBy ECO_0000203 NP724140.RAeseCrRCRhCF6IXxu778cdQyYuvIl9euYjcbgDbaQRos130_provenance.