Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
Owen R HirschiStephanie A FelkerSurya P RednamKelly L VallanceD Williams ParsonsAngshumoy RoyGregory M CooperSharon E PlonPublished in: medRxiv : the preprint server for health sciences (2023)
assays has the potential to identify disease-associated variants in patients without a molecular diagnosis.