Genetic & Genomic MedicineEuropean Heart JournalPeer-reviewed
Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome
Matthew J. O’Neill, Joanne G. Ma, Jessa L. Aldridge…·Chai‐Ann Ng
The paper uses automated patch clamp data to reclassify SCN5A variants in Brugada Syndrome, improving variant classification and penetrance stratification.
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