Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

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Date: April 9, 2024
Authors:
Addie Nesbitt, Ahmad Abou Tayoun, Aiko Iwata-Otsubo, Angela Grochowsky, Atsunori Yoshimura, Cara M Skraban, Cesar Augusto P Alves, Christopher Gray, Christoph Seiler, Elizabeth A Normand, Jaime Vengoechea, Katsuhiko Shirahige, Kelly Radtke, Kosuke Izumi, Lauren Lulis, Lindsay Rhodes, Meghan C. Towne, Paige Ernste, Sarah K Fiordaliso, Toyonori Sakata, Yukiko Kuroda
Journal: Human genetics