Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_assertion wasGeneratedBy ECO_0000203 NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_assertion wasDerivedFrom befree-20140225 NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_assertion SIO_000772 23861442 NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_assertion evidence source_evidence_literature NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_assertion description "[Here, we report a long-distance interaction (LDI) as a critical regulator of alternative splicing of Survival Motor Neuron 2 (SMN2) exon 7, skipping of which is linked to spinal muscular atrophy (SMA), a leading genetic disease of children and infants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP383672.RADZmtaR_47QqlWbXf0vg4ibW6vqb0KNmAJrejViIa3z0130_provenance.