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. 2024 Oct 31;11:1480947. doi: 10.3389/fmed.2024.1480947

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Copyright © 2024 Jaouadi, Morel, Martel, Lindenbaum, de la Chapelle, Herbane, Lucas, Magdinier, Gilbert, Schott, Zaffran and Nguyen.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Schematic representation of the TRIM63 gene. Upside: Rare variants identified in HYPERGEN cohort: Green: B/LB; Yellow: VUS; Red: LP/P; Downside: Variants reported in Clinvar database (clinical significance at last reviewed): Grey: VUS and conflicting interpretations of pathogenicity; Black: LP/P; Protein domains: Red = RING-finger domain (Zn-finger of 40 to 60 residue); Blue = B-Box-type zinc finger; Green = Zn2+ binding site; Yellow = Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits. Figure created with ProteinPaint (https://proteinpaint.stjude.org/).