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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C et al.
Orphanet Journal of Rare Diseases, 2022
35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc2
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
33307091 (PubMed )
Supplement: mmc1.pdf
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
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 variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2011
Evidence for population variation in TSC1 and TSC2 gene expression.
Jentarra GM et al.
Bmc Medical Genetics, 2011
Recent advances in neurobiology of Tuberous Sclerosis Complex.
Napolioni V et al.
Brain & Development, 2009
Genotype-phenotype correlations in tuberous sclerosis: who and how to treat.
Goh S et al.
Annals of Neurology, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC et al.
Annals of Neurology, 2006
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
Yamamoto T et al.
Brain & Development, 2002
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