Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion> ?p ?o ?g. }
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- NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion type Assertion NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_head.
- NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion description "[De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_provenance.
- NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion evidence source_evidence_literature NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_provenance.
- NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion SIO_000772 25725044 NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_provenance.
- NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion wasDerivedFrom befree-2016 NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_provenance.
- NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_assertion wasGeneratedBy ECO_0000203 NP1266970.RAEIKWAfhVa2dBfB0E2iMdEQVJhzg9klpiyN3oTWcYdq8130_provenance.