GeneticsThe American Journal of Human GeneticsPeer-reviewed
A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
Connie Jiang, Ebony Richardson, Jessica Farr…·Chai‐Ann Ng
This study uses a high-throughput patch-clamp assay to reclassify KCNH2 variants of uncertain significance, providing evidence for clinical interpretation.
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