Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder

Francesca Magrinelli*, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò E. Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H. Nemeth, German Demidov, Henry Houlden, Kailash P. Bhatia

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology