Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewed
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants
Joanne G. Ma, Matthew J. O’Neill, Ebony Richardson…·Andrew Michael Glazer
The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.
13 citations