Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_assertion description "[Mucopolysaccharidosis type VII (MPS VII), or Sly syndrome, is an autosomal recessive lysosomal storage disorder resulting from the deficiency in the activity of the enzyme beta-glucuronidase (GUSB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_assertion evidence source_evidence_literature NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_assertion SIO_000772 9987917 NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_assertion wasDerivedFrom befree-20140225 NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_assertion wasGeneratedBy ECO_0000203 NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP568309.RAHwyfXD3KOxpJdmSpQI3JgYFtQNLcLbCUuVS18lCYnNs130_provenance.