Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.
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| Main Authors: | Porubsky, David, Yoo, DongAhn, Koundinya, Nidhi, Souche, Erika, Dishuck, Philip C, Dierckxsens, Nicolas, Harvey, William T, Munson, Katherine M, Hoekzema, Kendra, Chan, Daniel D, Leung, Tiffany Y, Santos, Marta S, Meynants, Senne, Swillen, Ann, Breckpot, Jeroen, Tsapalou, Vasiliki, Hasenfeld, Patrick, Korbel, Jan O, Lansdorp, Peter M, Vermeesch, Joris R, Eichler, Evan E |
|---|---|
| Format: | Artículo científico |
| Language: | en |
| Published: |
Nature communications
2026
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