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. 2022 Nov 29;31(2):223–230. doi: 10.1038/s41431-022-01240-5

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© The Author(s), under exclusive licence to European Society of Human Genetics 2022, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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Fig. 2 — A Number of pathogenic and likely pathogenic variants identified per gene in the whole cohort analysed (27/740). LP likely pathogenic, P pathogenic. B Conditions associated to the SFs identified in the cohort. LQTS Long QT syndrome, HBOC Hereditary Breast and Ovarian Cancer, ACM Arrhythmogenic Cardiomyopathy, LS Lynch syndrome, HCM Hypertrophic Cardiomyopahty, HPPS Hereditary Paraganglioma-Pheochromocytoma Syndromes, FH Familial Hypercholesterolemia, EDS Ehlers-Danlos syndrome and CPVT Catecholaminergic Polymorphic Ventricular Tachycardia.