Associated Papers
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
West HD et al.
Human Mutation, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.
Bennett JA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
34131293 (PubMed )
Supplement: NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx › Sheet1
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Ali JB et al.
Journal of Medical Genetics, 1998
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Dabora SL et al.
Annals of Human Genetics, 1998
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