Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1138294.RA3NzQ8gD7XoX0DATRAXoiRMw3rebZoGBUJXN35j4rXUg#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24101679 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.