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- source_evidence_literature type ECO_0000212 NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_assertion description "[This study provides first evidence that NMD of SMN1 transcripts is responsible for the molecular basis of disease in a subset of SMA patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_assertion evidence source_evidence_literature NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_assertion SIO_000772 18172693 NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_assertion wasDerivedFrom befree-2016 NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_assertion wasGeneratedBy ECO_0000203 NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.
- befree-2016 importedOn "2016-02-19" NP648148.RA5PAK1kNGLZAGRXlTxKQ0nrYqATJRz5lsvi7dXsMukm4130_provenance.