Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion> ?p ?o ?g. }
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- NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion type Assertion NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_head.
- NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion description "[Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive condition unlinked to mutations in SMN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_provenance.
- NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion evidence source_evidence_literature NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_provenance.
- NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion SIO_000772 22703880 NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_provenance.
- NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion wasDerivedFrom befree-20140225 NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_provenance.
- NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_assertion wasGeneratedBy ECO_0000203 NP615988.RA5l4I2XhtjOT37-BwmtFMoaMK-HXubyLVh2e0Kme0xGo130_provenance.