Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion> ?p ?o ?g. }
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- NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion type Assertion NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_head.
- NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion description "[We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_provenance.
- NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion evidence source_evidence_literature NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_provenance.
- NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion SIO_000772 22243967 NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_provenance.
- NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion wasDerivedFrom befree-20150227 NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_provenance.
- NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_assertion wasGeneratedBy ECO_0000203 NP963766.RAIAjAmDRzRPmlD-CZmvSpH8Wna75sZctV8IbNoFSGURA130_provenance.