Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_assertion wasGeneratedBy ECO_0000218 NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_assertion wasDerivedFrom uniprot-2016 NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_assertion SIO_000772 10581036 NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_assertion evidence source_evidence_curated NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.
- NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_assertion description "[Our observations suggest that mutations in SLC17A5 are the primary cause of lysosomal sialic acid storage diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP509.RABuwaiyG31dpMQQMIg6zr1Lqa0gD6kAxojEXT9w4UqzY130_provenance.