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Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2 .

Wei Shern LeeEmma Macdonald-LaursSarah StephensonColleen D'ArcyWirginia MaixnerAnthony HarveyPaul J LockhartRichard J Leventer
Published in: Neurology (2023)
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Keyphrases
  • copy number
  • mental health
  • gene expression