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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

Abstract : 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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Preprints, Working Papers, ...
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https://hal-riip.archives-ouvertes.fr/pasteur-03561412
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Submitted on : Tuesday, February 8, 2022 - 11:12:45 AM
Last modification on : Thursday, February 10, 2022 - 10:36:33 AM

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Hager Jaouadi, Sonia Chabrak, Saida Lahbib, Sonia Abdelhak, Stéphane Zaffran. 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. 2022. ⟨pasteur-03561412⟩

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