Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP962026.RAeMnN5tnV3RnCm79ir0inC2ZfxTto0m0qQJ1yWQ4vIq4#assertion> ?p ?o ?g. }
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- assertion description "[Mutation p.Pro244Leu, not described so far, was identified in a patient with a mild form of SMA and more distal distribution of muscle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24844453 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.