Publication | Closed Access
De novo hotspot variants in <i>CYFIP2</i> cause early‐onset epileptic encephalopathy
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Citations
35
References
2018
Year
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.
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