Genetic & Genomic MedicineCirculationPeer-reviewed
Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification
Matthew J. O’Neill, Chai‐Ann Ng, Takanori Aizawa…·Brett M. Kroncke
This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.
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