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胎儿胸腔积液背后的神秘 “推手”:PAK2 基因变异与诺布洛赫综合征 ...
PAK2 是一种广泛存在于人体各处的蛋白质,在细胞骨架的调节和重塑以及众多其他细胞通路中发挥着关键作用。然而,尽管 PAK1 和 PAK3 基因突变导致的神经发育表型已较为明确,但 PAK2 基因突变相关的表型及其功能影响仍扑朔迷离。目前已知,PAK2 基因的功能缺失 ...
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