Litcius/Paper detail

An emerging spectrum of variants and clinical features in <i>KCNMA1</i>-linked channelopathy

Jacob P. Miller, Hans Moldenhauer, Sotirios Keros, Andrea L. Meredith

2021Channels69 citationsDOIOpen Access PDF

Abstract

gene variants.

Topics & Concepts

ChannelopathyGeneticsPhenotypeLoss functionMedicineAlleleBioinformaticsBiologyInternal medicineGeneIon channel regulation and functionCardiac electrophysiology and arrhythmiasGenetics and Neurodevelopmental Disorders