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Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction

K. Rodenburg Leony Fenwick R. Pennings L. Haer-Wigman T. Ben-Yosef F. van Erp Janine Reurink C. Gilissen L. I. van den Born F. P. Cremers Yuval Cohen H. Yntema E. de Vrieze H. Kremer S. D. de Bruijn R. Collin S. Roosing E. van Wijk
Aug 2026 · bioRxiv · 0 citations · 16 references
Biology
DOI Semantic Scholar
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