Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP615806.RAyimFOEmxzPfsllSSC4Ooqy_eWcJ92SRNibWxwFtmjas130_provenance.