GeneticsCirculation Genomic and Precision MedicinePeer-reviewed
High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance
Carlos G. Vanoye, Reshma R. Desai, Katarina L. Fabre…·Alfred L. George
This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.
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