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Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

Porubsky D, Yoo D, Dishuck PC, Koundinya N, Souche E, Harvey WT, Munson KM, Hoekzema K, Chan DD, Leung TY, Santos MS, Meynants S, Swillen A, Breckpot J, Tsapalou V, Hasenfeld P, Korbel JO, Lansdorp PM, Vermeesch JR, Eichler EE. (2025). Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion. bioRxiv [Preprint] Jul 7:2025.07.04.662981. doi: 10.1101/2025.07.04.662981.

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