Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasisPauline E. Schneeberger(Universität Hamburg)BrainMay 25, 202110.1093/brain/awab206Cited by 13SaveCiteExport RISWatch citationsRelated PapersBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder|Brain|2020|59de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation|Scientific Reports|2019|20