Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion> ?p ?o ?g. }
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- NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion type Assertion NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_head.
- NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion description "[To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia (FDFM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_provenance.
- NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion evidence source_evidence_literature NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_provenance.
- NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion SIO_000772 24700542 NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_provenance.
- NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion wasDerivedFrom befree-2016 NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_provenance.
- NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_assertion wasGeneratedBy ECO_0000203 NP1170189.RAd9AEo7E_r_agn5KFKx2ijw3EFmMhkzkoFez6wV7qEOU130_provenance.