Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_assertion> ?p ?o ?g. }
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- NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_assertion type Assertion NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_head.
- NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_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." NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_provenance.
- NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_assertion evidence source_evidence_literature NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_provenance.
- NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_assertion SIO_000772 22703880 NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_provenance.
- NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_assertion wasDerivedFrom befree-2016 NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_provenance.
- NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_assertion wasGeneratedBy ECO_0000203 NP990500.RA0qHRy7IuZW9VcPWuN7WFj3FQAfGKD1LQ3W3aEJC1RAA130_provenance.