Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_assertion> ?p ?o ?g. }
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- NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_assertion type Assertion NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_head.
- NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_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." NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_provenance.
- NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_assertion evidence source_evidence_literature NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_provenance.
- NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_assertion SIO_000772 18172693 NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_provenance.
- NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_assertion wasDerivedFrom befree-2016 NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_provenance.
- NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_assertion wasGeneratedBy ECO_0000203 NP648146.RA0dfvLkPgSw3txoKP4HWcRjNrqWka2qFpNSaErHcw6_w130_provenance.