Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies
靶向长读长cDNA测序揭示了导致视网膜营养不良的新型剪接改变致病变异
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100442
Capasso, Dalila; Zeuli, Roberta; Arno, Gavin; Kwint, Michael; Timmermans, Raoul; Ruiz-Ceja, Karla A; Karali, Marianthi; Simonelli, Francesca; Signorini, Sabrina; Valente, Enza Maria; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne; Panneman, Daan M; de Bruijn, Suzanne E
