Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
纤毛病基因CFAP410的编码区和非编码区变异会导致早发性非综合征性视网膜变性。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-024-00439-3
Sangermano, Riccardo; Gupta, Priya; Price, Cherrell; Han, Jinu; Navarro, Julien; Condroyer, Christel; Place, Emily M; Antonio, Aline; Mukai, Shizuo; Zanlonghi, Xavier; Sahel, José-Alain; DiTroia, Stephanie; O'Heir, Emily; Duncan, Jacque L; Pierce, Eric A; Zeitz, Christina; Audo, Isabelle; Huckfeldt, Rachel M; Bujakowska, Kinga M
