Loss-of-function variants in UBAP1Lcause autosomal recessive retinal degeneration

Autor: Han, Ji Hoon, Rodenburg, Kim, Hayman, Tamar, Calzetti, Giacomo, Kaminska, Karolina, Quinodoz, Mathieu, Marra, Molly, Wallerich, Sandrine, Allon, Gilad, Nagy, Zoltán Z., Knézy, Krisztina, Li, Yumei, Chen, Rui, Salgueiro Barboni, Mirella Telles, Yang, Paul, Pennesi, Mark E., Ingeborgh van den Born, L., Varsányi, Balázs, Szabó, Viktória, Sharon, Dror, Banin, Eyal, Ben-Yosef, Tamar, Roosing, Susanne, Koenekoop, Robert K., Rivolta, Carlo
Zdroj: Genetics in Medicine; 20240101, Issue: Preprints
Abstrakt: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.
Databáze: Supplemental Index