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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

by Li, Dong, Battig, Mark R, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Harr, Margaret H, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Wright, Meredith, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Byler, Melissa, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Martinez-Agosto, Julian A, Rabani, Ahna M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Wilson, Ashley, Jizi, Khadijé, Quelin, Chloé, Chick, Erika, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana, Cordeiro, Dawn, Carnevale, Amanda, Funalot, Benoît, Tran Mau-Them, Frederic, Fernandez Garcia Moya, Luis, Chad, Lauren, Li, Chumei, Sanchez-Valle, Amarilis, Sulem, Patrick, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Hadj Habdallah, Hamza, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Pfundt, Rolph, de Vries, Bert Ba, van Slegtenhorst, Marjon A, Brooks, Alice S, Cogne, Benjamin, Zackai, Elaine H, Song, Yuanquan, Hakonarson, Hakon
Published in The Journal of clinical investigation (01.01.2024)

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