Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
Matthew J O'NeillYuko WadaLynn D HallDevyn W MitchellAndrew M GlazerDan M RodenPublished in: Circulation. Genomic and precision medicine (2022)
Functional assays reclassified splice-altering variants outside canonical splice sites in Brugada Syndrome- and long QT syndrome-associated genes.