Associated Papers
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Farach LS et al.
Gene, 2023
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.
Sudarshan S et al.
Journal of Pediatric Genetics, 2021
Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas.
Corso S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J et al.
Plos One, 2019
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Roberts PS et al.
Journal of Medical Genetics, 2004
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