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, Lucas Fernandes Jatai, Patrícia Santos da Silva, Tiago Finger Andreis, Larissa Brussa Reis, Cristina Brinckmann Oliveira Netto, Patrícia Ashton‐Prolla, 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.
medRxiv · Jan 30, 2025 · PreprintGenetic & Genomic Medicine