Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_assertion type Assertion NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_head.
- NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_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." NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_provenance.
- NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_assertion evidence source_evidence_literature NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_provenance.
- NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_assertion SIO_000772 23073245 NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_provenance.
- NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_assertion wasDerivedFrom befree-2016 NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_provenance.
- NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_assertion wasGeneratedBy ECO_0000203 NP1021648.RA09g5jqWJ_fDOcL6HI7CXSmXGnvOkbD8s57g3wPoi-mY130_provenance.