Genetic & Genomic MedicinemedRxivPreprint
TSC1 mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing results
Arthur Bandeira de Mello Garcia, Taís da Silveira Fischer, Maria Clara de Freitas Pinho…·Clévia Rosset
This study identifies mRNA processing errors in TSC patients with negative or inconclusive genetic tests using cDNA analysis, reclassifying a variant of uncertain significance as pathogenic.