Presentation Information
[P1-03-5]Unexpectedly Mild Clinical Features in a Patient with a Nonsense Variant in the N-terminal Clamp Domain of POLR1A
Risako Ishioka, Masanori Fujimoto, Yuka Murofushi, Daisuke Ieda, Yutaka Negishi, Ayako Hattori, Shinji Saitoh (Nagoya City University, Graduate School of Medical Science, Department of Pediatrics and Neonatology, Japan)
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