2 Matching Annotations
  1. Mar 2021
    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 89.4

      AssayResultAssertion: Normal

      ReplicateCount: 26

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)