Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa
影响 EYS 假定启动子的非编码单核苷酸和结构变异会导致常染色体隐性遗传性视网膜色素变性。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101427
Hayman, Tamar; Ovadia, Shai; Krishnan, Jaya; Bouckaert, Manon; Panneman, Daan M; English, Milton; Valensi, Johanna; Cremers, Frans P M; Ben Yosef, Tamar; van den Born, L Ingeborgh; de Bruijn, Suzanne E; Roosing, Susanne; Banin, Eyal; Khateb, Samer; Ashery-Padan, Ruth; Coppieters, Frauke; Swaroop, Anand; Sharon, Dror
