Article

<i>TSC1</i>mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing results

2025-02-02

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by the presence of pathogenic germline variants in TSC1 or TSC2 genes. However, most TSC1 and TSC2 genetic testing strategies are limited and about 20% of patients have inconclusive or negative results. In this study, we standardized a low-cost technique based on RT-PCR followed by Sanger sequencing, aimed to complement genetic testing strat...

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Literature Corpus work: 2a919318-2b49-566d-920e-d0323e2ab664
DOI: 10.1101/2025.01.30.25321206

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