A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
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Chunnuan Chen | Yingjun Xie | Yuying Jiang | Shuhong Zeng | J. Zhuang | Gaoxiong Wang | Yuanbai Wang | Wanyu Fu | Meihua Xie | Jianfeng Yao