Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
Alfredo Dueñas Rey(Ghent University Hospital), Frauke Coppieters(Ghent University Hospital)
Cited by 14
Related Papers
Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
|Human Mutation|2020|22