Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_assertion> ?p ?o ?g. }
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- NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_assertion type Assertion NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_head.
- NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_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." NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_provenance.
- NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_assertion evidence source_evidence_literature NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_provenance.
- NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_assertion SIO_000772 22703880 NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_provenance.
- NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_assertion wasDerivedFrom befree-20140225 NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_provenance.
- NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_assertion wasGeneratedBy ECO_0000203 NP663753.RAvT2OCNVL8ybpzA0vDlTS4J9BL_rAg8azk_vJDNsI9ag130_provenance.