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Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Number of pathogenic/likely pathogenic (P/LP) variants and VUSs according to ACMG guidelines, identified in the patients analyzed using (A) first-level and (B) enlarged panels and divided by main and uncommon genes.