Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability - Liao, Baoqiong; Xie, Wuming; He, Shuwen (Frontiers in neurology, 2025)
Keywords: ASH1L; intellectual disability; Neurologi; Neurology; neuroscience; onsense mutation; WES - whole-exome sequencing; onsense mutation; ASH1L; neuroscience; intellectual disability; WES - whole-exome sequencing