A novel spliceosomopathy caused by de novo SF3B3 variants.
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and 29 other authors
Yee-Ming Chan, Emily Groopman, Michal Berkenstadt, Daniel Koboldt, Rachel Williamson, Han G Brunner, Lisenka ELM Vissers, Pernille M Torring, Qin Hao, Bruce D Gelb, Elizabeth Goldmuntz, Kristen Reed, Emma C Bedoukian, Davide Vecchio, Emanuela Salzano, Maria Piccione, Caterina Zanus, Catia Mio, Evan E Eichler, Tianyun Wang, Wesley G Patterson, Kameryn M Butler, Mattie Piotrowski, Sandra Mercier, Benjamin Cogné, Ingrid M Wentzensen, Emanuele Buratti, Alessandra Magistrato, Flavio FaletraData
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