TSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex
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Objectives: Tuberous sclerosis complex (TSC) is autosomal dominant neurocutaneous disorder caused by TSC1/2 pathogenic variants. We report a child with refractory epilepsy and developmental delay who harbors a de novo TSC2 p.V164... ...
