Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_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." NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_assertion evidence source_evidence_curated NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_assertion SIO_000772 10751093 NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_assertion wasDerivedFrom uniprot-2016 NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_assertion wasGeneratedBy ECO_0000218 NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP755.RAhJ9Bxj4iuSA-l4UfxlnnUv5b6USJXdQSmz90CwEXHgQ130_provenance.