Nature CommunicationsThe missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effectsLinjuan YuanShanshan ChengXian LiuWenhua LiuTing XieWei XieZi Chao ZhangJunhai Han2026-01-08Full textDOI https://doi.org/10.1038/s41467-025-68202-5