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Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.
Capasso D, Zeuli R, Arno G, Kwint M, Timmermans R, Ruiz-Ceja KA, Karali M, Simonelli F, Signorini S, Valente EM, Cremers FPM, Banfi S, Roosing S, Panneman DM, de Bruijn SE. Capasso D, et al. Among authors: ruiz ceja ka. HGG Adv. 2025 Apr 18;6(3):100442. doi: 10.1016/j.xhgg.2025.100442. Online ahead of print. HGG Adv. 2025. PMID: 40251809 Free PMC article.