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

Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z. Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E. Pennesi, L. Ingeborgh van den Born, Balázs Varsányi, Viktória Szabó, Dror SharonEyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K. Koenekoop, Carlo Rivolta*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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Medicine and Dentistry