Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_assertion description "[Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_assertion evidence source_evidence_curated NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_assertion SIO_000772 10751093 NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_assertion wasDerivedFrom uniprot-20130724 NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_assertion wasGeneratedBy ECO_0000218 NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP500.RAfg9OzfPJA5eNSe-CBJKMxsKFvFKtu1kHdfN1Jq8uSG8130_provenance.