Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_assertion type Assertion NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_head.
- NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_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." NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_assertion evidence source_evidence_literature NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_assertion SIO_000772 18172693 NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_assertion wasDerivedFrom befree-20140225 NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_assertion wasGeneratedBy ECO_0000203 NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.