Associated Papers
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue.
Haque B et al.
European Journal of Human Genetics : Ejhg, 2024
An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.
Garcia ABM et al.
Genetics and Molecular Biology, 2024
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 2023
37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
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