Data of Evelien Va Hoeymissen for manuscript "Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders"
Additional file 2: Table S1. Summary of explaining and response variables in the regression analyses. Table S2. Summary of models for relative number of < 1 Mb LOF CNV per gene. Table S3. Mutation
Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA). Overall
MECP2 (methyl-CpG binding protein 2) is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes