Biallelic loss‐of‐function variants in <i>TBC1D2B</i> cause a neurodevelopmental disorder with seizures and gingival overgrowth
Frederike L. Harms(Universität Hamburg), Kerstin Kutsche(Universität Hamburg)
Cited by 17
Related Papers
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
|Scientific Reports|2019|20
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
|Genetics in Medicine|2023|6