Pathogenic Variants in RNU2‐2 , a Non‐coding Spliceosomal RNA , Cause a Distinctive Developmental and Epileptic Encephalopathy

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Annie T.G. Chiu, Mark F. Bennett, Harshini Thiyagarajah, Amy L. Schneider, Sian M.W. Macdonald, Tom Witkowski, Edith P Almanza Fuerte, Talia J. Allan, Nico Lieffering, Blake Robinson, Christy W. LaFlamme, Soham Sengupta, Clara W.T. Chung, Michael Cardamone, Cassandra Gray, Piero Perucca, Samuel F. Berkovic, Heather C. Mefford, Michael S. Hildebrand, Ingrid E. Scheffer
Format: Artículo Open Access
Published: Wiley 2025
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