Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion description "[She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion evidence source_evidence_curated NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion SIO_000772 21265945 NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion wasDerivedFrom uniprot-2016 NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion wasGeneratedBy ECO_0000218 NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_provenance.