Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_assertion> ?p ?o ?g. }
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- NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_assertion type Assertion NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_head.
- NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_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." NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_provenance.
- NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_assertion evidence source_evidence_literature NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_provenance.
- NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_assertion SIO_000772 18172693 NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_provenance.
- NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_assertion wasDerivedFrom befree-2016 NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_provenance.
- NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_assertion wasGeneratedBy ECO_0000203 NP648145.RAkj5f7U5Remg9hVBC0Wg0cLcdoO5XfWR4n_lhB7T5c20130_provenance.