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Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome.

Rebeca LorcaAlejandro JuncoMaria Martin-FernandezIsaac PascualAndrea AparicioNoemi BarjaElias Cuesta-LLavonaLuis RocesPablo AvanzasCésar MorísEliecer CotoJosé Julían Rodríguez RegueroJuan Gómez de Oña
Published in: Journal of clinical medicine (2020)
KCNQ1 G168R is a pathogenic variant, with a high penetrance among women and mild penetrance among men. Risk for LAEs in this variant seems not negligible, especially among woman, and risk stratification should always be carefully evaluated.
Keyphrases
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