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A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

Yoo H, Medina N, von Wulffen M, Ciampi N, Paolucci A, Garro H, Principato M, Acunzo R, Carbajales J

Background: The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant...
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