Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_assertion> ?p ?o ?g. }
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- NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_assertion type Assertion NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_head.
- NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_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." NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_provenance.
- NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_assertion evidence source_evidence_literature NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_provenance.
- NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_assertion SIO_000772 22703880 NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_provenance.
- NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_assertion wasDerivedFrom befree-20140225 NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_provenance.
- NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_assertion wasGeneratedBy ECO_0000203 NP354981.RAJ911i0a10TdQJTrEZoXsFPHzW5JgVV0k4SYKzNG7opA130_provenance.