Pathogenic REST variant causing Jones syndrome and a review of the literature
致病性REST变异导致琼斯综合征及文献综述
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01258-9
Rahikkala, Elisa; Julku, Johanna; Koskinen, Sari; Keski-Filppula, Tommi; Weissgraeber, Stephanie; Bertoli-Avella, Aida M; Häkli, Sanna; Kraatari-Tiri, Minna