Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion> ?p ?o ?g. }
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- NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_assertion type Assertion NP6504.RAHyikDW0DOZ164arC4PjS4hZcBUoCJl1upLsR4Y6fEUs130_head.
- 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.