Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion> ?p ?o ?g. }
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- NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion type Assertion NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_head.
- NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion description "[PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_provenance.
- NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion evidence source_evidence_literature NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_provenance.
- NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion SIO_000772 23073245 NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_provenance.
- NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion wasDerivedFrom befree-20150227 NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_provenance.
- NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_assertion wasGeneratedBy ECO_0000203 NP523446.RAfDhRcJ6YKZa9rSRVw-uwHBZrYJ0h-MX7O2WUd7-x1OE130_provenance.