Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP635844.RAapF16oSbSoBlbjf7IBNlk17V80KDI4QiZrStBn3Fc24#assertion> ?p ?o ?g. }
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- assertion description "[Both mutations render SMN1 transcripts susceptible to nonsense-mediated mRNA decay (NMD), resulting in mRNA degradation, insufficient SMN protein levels and development of an SMA phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18172693 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.