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SCN5A as a pleiotropic gene. As in the case of PKP2 (Figure 6), seemingly unrelated functions related to the expression of the SCN5A gene can, if impaired, cause a clinical phenotype consequent to the balance of endophenotypes that were affected by the mutation, ranging from purely electrical (blue) to structural (red) or a combination of both “Brugada syndrome/arrhythmogenic cardiomyopathy.”
