Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion> ?p ?o ?g. }
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- NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion type Assertion NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_head.
- NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_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." NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_provenance.
- NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion evidence source_evidence_curated NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_provenance.
- NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion SIO_000772 22243967 NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_provenance.
- NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion wasDerivedFrom uniprot-20130724 NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_provenance.
- NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion wasGeneratedBy ECO_0000218 NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_provenance.