Spatially clustering de novo variants in CYFIP2 , encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Volume: 27, Issue: 5, Pages: 747 - 759
Published: Jan 21, 2019
Abstract
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic...
Paper Details
Title
Spatially clustering de novo variants in CYFIP2 , encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Published Date
Jan 21, 2019
Volume
27
Issue
5
Pages
747 - 759
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