Does function trump bioinformatics in Brugada syndrome-associated SCN5A mutation calling? Patients, computers, and patches.

It is likely that this explains why, in many earlier studies, the association of SCN5A variant status with phenotype severity did not reach statistical significance ( Graphical Abstract ), with the exception of only three studies (out of 12) 7 , 9 , 10 (see Supplementary material at European Heart Journal online on quantitative data and the references of all these studies).

also in 111,027 other papers