Publication | Open Access

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Allelic VariantDevelopmental BiologyGenetic DisorderMedicineGeneticsMolecular GeneticsNuclear BodiesDisease Gene IdentificationGenomicsProtein LocalizationTrim8 VariantsVariant Interpretation