Associated Papers
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
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6
Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.
Palsgrove DN et al.
The American Journal of Surgical Pathology, 2018
Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition.
Sanmartín E et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
28830922 (PubMed )
Supplement: 10780432ccr170593-sup-179482_3_supp_4200607_ddbcdd.xlsx › Cell_lines
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
A reliable cell-based assay for testing unclassified TSC2 gene variants.
Coevoets R et al.
European Journal of Human Genetics : Ejhg, 2009
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