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. 2021 Dec 20;22(24):13633. doi: 10.3390/ijms222413633

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© 2021 by the authors.

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/).

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Localization of variants present in the genes of interest. Variant localization in the protein sequence, according to the Elaspic and Interpro webserver, and the relative functional domains involved. Variants present in the patient group are shown in red; Variants present in the control group are shown in green. VPS10: VPS10 domain; Ldl_recept_a: LDL receptor class a; Ldl_recept_b: LDL receptor class b; fn3: Fibronectin type 3 domain; PTEN: PTEN domain; PTEN_C2: C2 domain of PTEN tumor-suppressor protein; Dnaj: DnaJ domain.