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Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

2021-10-30

Abstract excerpt

Catecholaminergic Polymorphic Ventricular Tachycardia is a life-threatening disorder. The clinical diagnosis is challenging owing to the absence of electrocardiogram and overt structural heart abnormalities in the majority of patients. Approximately 35% of cases remain without a genetic etiology. Here, we identified two genes as a novel promising candidate for CPVT.

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Literature Corpus work
eb0bad68-0fea-5941-91d2-9eb4dd26e298
DOI
10.22541/au.163561848.88414678/v1
Open publication

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