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

Aiko Iwata-Otsubo; Cara M. Skraban; Atsunori Yoshimura; Toyonori Sakata; Cesar Augusto P. Alves; Sarah K. Fiordaliso; Yukiko Kuroda; Jaime Vengoechea; Angela Grochowsky; Paige Ernste; Lauren Lulis; Addie Nesbitt; Ahmad Abou Tayoun; Christopher Gray; Meghan C. Towne; Kelly Radtke; Elizabeth A. Normand; Lindsay Rhodes; Christoph Seiler; Katsuhiko Shirahige; Kosuke Izumi
Human Genetics · Vol. 143, Issue 3 · pp. 437-453 · 2024
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2024-03-01
Publication Year2024
Volume143
Issue3
Pages437-453
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-024-02656-3

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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