Articles with "gly262alafster98 new" as a keyword



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KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

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Published in 2022 at "Life"

DOI: 10.3390/life12040556

Abstract: Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are… read more here.

Keywords: gly262alafster98 new; long syndrome; spanish cohort; variant ... See more keywords