Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knezy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsanyi B, Szabo V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Genet Med 26:101106 (2024)
DOI:10.1016/j.gim.2024.101106

[hsa:390595]