Genetic & Genomic MedicinemedRxivPreprint
Pathogenic MYRF ICA Domain Variant is Aberrantly Trafficked in the RPE and Results in Isolated Nanophthalmos
Gabrielle M Rozumek, Rachel S. Lim, William Presley…·Lev Prasov
This study identifies a pathogenic MYRF variant causing isolated nanophthalmos by showing it is cleavage deficient, mislocalized, and reduces transcriptional activity with SOX10.
DOI 10.64898/2026.11.08.26367379