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Journal: Int. J. Mol. Sci., 2026
Volume: 27
Number: 765
765
Article: Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants
Authors: by Inés Llinares-Burguet, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sanchez, Daniel Romano-Medina, Lobna Ramadane-Morchadi, Alicia García-Álvarez, Pedro Pérez-Segura, Doug F. Easton, Peter Devilee, Maaike P. G. Vreeswijk, Miguel de la Hoya and Eladio A. Velasco-Sampedro
Link: https://www.mdpi.com/1422-0067/27/2/765

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