Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay
Kate L. Thomson, Connie Jiang, Ebony Richardson…·Chai‐Ann Ng
The paper establishes a functional patch clamp assay to classify KCNH2 variants in LQTS, using Z-scores to inform ACMG criteria and correlate with clinical scores.
11 citations