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De novo hotspot variants in <i>CYFIP2</i> cause early‐onset epileptic encephalopathy

80

Citations

35

References

2018

Year

Abstract

Our findings suggest that de novo Arg87 variants in CYFIP2 have gain-of-function effects on the WAVE signaling pathway and are associated with severe neurological disorders. Ann Neurol 2018;83:794-806.

References

YearCitations

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