Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing
通过全基因组测序鉴定出导致先天性静止性夜盲症的 CACNA1F 基因新型结构变异
期刊:Ophthalmic Genetics
影响因子:1
doi:10.1080/13816810.2025.2540407
Martinez Sanchez, Mayra; Meher, Nafiza; DeBruyn, Hanna; Jain, Ashish; Sun, Liang; Gulkas, Samet; Altschwager, Pablo; Fulton, Anne; Whitman, Mary C