A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Authors: Bharati Jadhav, Paras Garg, Joke J. F. A. van Vugt, Kristina Ibanez, Delia Gagliardi, William Lee, Mariya Shadrina, Tom Mokveld, Egor Dolzhenko, Alejandro Martin-Trujillo, Scott J. Gies, Gabrielle Altman, Clarissa Rocca, Mafalda Barbosa, Miten Jain, Nayana Lahiri, Katherine Lachlan, Henry Houlden, Benedict Paten, , A. Tucci, , J. H. Veldink, Jan Veldink, Arianna Tucci, Andrew J. Sharp

Published: 2024-09-23

DOI: 10.1038/s41588-024-01917-1

Source: Full article

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Abstract

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