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Long Read Nanopore Sequencing Identifies Precise Breakpoints of a De Novo Paracentric Inversion That Disrupt the MEIS2 Gene in a Chinese Girl with Syndromic Developmental Delay

Jianxin Tan,Mingtao Huang,Xiuqing Ji,An Liu,Fengchang Qiao,Cuiping Zhang,Lulu Meng,Yan Wang,Zhengfeng Xu,Ping Hu

BMC Pediatrics（2025）

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关键词
Long read sequencing,MEIS2,Paracentric inversion,Syndromic developmental delay
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