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Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the growth of benign tumours in multiple organs, including the brain and kidneys, alongside intellectual disability andExpand
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Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey
OBJECTIVES Individuals with tuberous sclerosis complex (TSC) experience a wide range of health impacts, including epileptic seizures, negatively impacting their health-related quality of lifeExpand
  • 5
Renal cancer and the kidney in cancer
  • 1
G304 Delphi consensus process for the uk guidelines for management and surveillance of tuberous sclerosis complex
Background Tuberous Sclerosis Complex (TSC) is a multi-systemic genetic disease. The severity of TSC can vary among affected individuals. Complications of TSC can be life threatening, withExpand