Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report.
Liu L et al.
Medicine, 2022
A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family.
Qiu C et al.
Molecular Genetics & Genomic Medicine, 2020
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