Associated Papers
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
40655946 (PubMed )
Supplement: DataSheet1.pdf
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
25782670 (PubMed )
Supplement: ejhg201547x2.xls › mutation_data
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
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2013
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 2010
20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys
Select a paper to view details