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Croatian Medical Journal|January 9, 2018
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variantStela Živčić-Ćosić, Karin Mayer, Gordana Đorđević, et al.
Gene|June 13, 2023
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variantsLaura S Farach, Hope Northrup, Mark Nellist, et al.
Plos One|April 10, 2014
Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complexArthur Jorge Santiago Lima, Marianne Hoogeveen-Westerveld, Akio Nakashima, et al.
European Journal of Human Genetics : EJHG|March 31, 2005
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis ComplexOzgur Sancak, Mark Nellist, Miriam Goedbloed, et al.
Structure (London, England : 1993)|June 6, 2020
Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic MutationsPatrick Hansmann, Anne Brückner, Stephan Kiontke, et al.
BMC Medical Genetics|February 28, 2008
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complexMark Nellist, Ozgür Sancak, Miriam Goedbloed, et al.
Molecular and Cellular Biology|February 16, 2011
Rheb is essential for murine developmentSusanna M I Goorden, Marianne Hoogeveen-Westerveld, Caroline Cheng, et al.
BMC Medical Genetics|September 15, 2009
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complexMelika Mozaffari, Marianne Hoogeveen-Westerveld, David Kwiatkowski, et al.
Plos Biology|May 26, 2021
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivityMartina Proietti Onori, Linda M C Koene, Carmen B Schäfer, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|April 16, 2008
Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complexKarin Boer, Dirk Troost, Floor Jansen, et al.
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