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Objective
Rare variants of CCNK (cyclin K) give rise to a syndrome with intellectual disability. The purpose of this study was to describe the genotype–phenotype spectrum of CCNK‐related syndrome and the underlying molecular mechanisms of pathogenesis.
Methods
We identified a number of de novo CCNK variants in unrelated patients. We generated patient‐induced pluripotent stem cells (iPSCs) and neural...
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