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- W2887987734 abstract "Triadin is a transmembrane protein located in the sarcoplasmic reticulum; it interacts with both ryanodine (RYR2) and calsequestrin (CASQ2) to facilitate calcium homeostasis in the human cardiac and skeletal muscle cells.1 Pathogenic variants in the RYR2 and CASQ2 genes are more commonly associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). Triadin is a more recently acknowledged protein, wherein genetic aberrations in triadin are responsible for a number of malignant arrhythmic syndromes, particularly in younger children." @default.
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- W2887987734 date "2018-11-01" @default.
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- W2887987734 title "A unique triadin exon deletion causing a null phenotype" @default.
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- W2887987734 doi "https://doi.org/10.1016/j.hrcr.2018.07.014" @default.
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