Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1394574.RAPE4jtuhT2foXYdl4KHGb_XOiju1Ch8q6sYPO9k59nCA#assertion> ?p ?o ?g. }
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- assertion description "[After we discovered a PRRT2 mutation in a large family with ICCA containing one individual with febrile seizures (FS) and one individual with West syndrome, we analysed PRRT2 in a heterogeneous cohort of patients with different types of infantile epilepsy.]. 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.