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B-PO03-017 ROLE OF KV11.1 MISTRAFFICKING IN HIGHLY PENETRANT KCNQ1 VARIANTS

      Loss of function (LOF) variants in KCNQ1 or KCNH2, encoding KV7.1 and KV11.1 respectively, are the commonest causes of the congenital long QT syndrome (LQTS). Previous studies have suggested that a KV7.1-KV11.1 interaction can modulate KV11.1 cell surface expression and thus determine whether a KCNQ1 LOF variant generates a severe phenotype.
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