Oct 2026
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder et al.
· JAMA ophthalmology · 0 citations
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Aug 2026
Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction
K. Rodenburg, Leony Fenwick, R. Pennings et al.
· bioRxiv · 0 citations