de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Pauline E. Schneeberger(Universität Hamburg), Kerstin Kutsche(Universität Hamburg)
Cited by 20
Related Papers
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
|Brain|2020|59
Biallelic loss‐of‐function variants in <i>TBC1D2B</i> cause a neurodevelopmental disorder with seizures and gingival overgrowth
|Human Mutation|2020|17
Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasis
|Brain|2021|13
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
|Genetics in Medicine|2023|6