Genetic & Genomic MedicinemedRxivPreprint
ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsive
Yuji Nakamura, Toan Nguyen, Nofar Mor…·Joseph G. Gleeson
The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.
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