Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_assertion> ?p ?o ?g. }
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- NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_assertion type Assertion NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_head.
- NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_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." NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_provenance.
- NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_assertion evidence source_evidence_literature NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_provenance.
- NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_assertion SIO_000772 12890191 NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_provenance.
- NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_assertion wasDerivedFrom befree-20150227 NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_provenance.
- NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_assertion wasGeneratedBy ECO_0000203 NP545209.RA3nDMPk59V316EUtAILUeYo1TGaFrn2qoUHWzhNE9ekg130_provenance.