A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome
在患有 Knobloch 2 型综合征的个体中检测到 PAK2 的新生变异
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doi:10.1101/2024.04.18.590108
Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter N Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson