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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Iwata-Otsubo A, et al. Among authors: lulis l. Hum Genet. 2024 Mar 23. doi: 10.1007/s00439-024-02656-3. Online ahead of print. Hum Genet. 2024. PMID: 38520561