Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C.
Han JH, et al. Among authors: szabo v.
Genet Med. 2024 Jun;26(6):101106. doi: 10.1016/j.gim.2024.101106. Epub 2024 Feb 28.
Genet Med. 2024.
PMID: 38420906
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