Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
对智力障碍患者中GRIA1错义和截断变异的鉴定和功能评估:一种新兴的神经发育综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.05.009
Ismail, Vardha; Zachariassen, Linda G; Godwin, Annie; Sahakian, Mane; Ellard, Sian; Stals, Karen L; Baple, Emma; Brown, Kate Tatton; Foulds, Nicola; Wheway, Gabrielle; Parker, Matthew O; Lyngby, Signe M; Pedersen, Miriam G; Desir, Julie; Bayat, Allan; Musgaard, Maria; Guille, Matthew; Kristensen, Anders S; Baralle, Diana