학술논문
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
Document Type
Article
Author
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; Barboni, Mirella Telles Salgueiro; Yang, Paul; Pennesi, Mark E.; van den Born, L. Ingeborgh; Varsányi, Balázs; Szabó, Viktória; Sharon, Dror; Banin, Eyal; Ben-Yosef, Tamar; Roosing, Susanne; Koenekoop, Robert K.; Rivolta, Carlo
Source
In Genetics in Medicine June 2024 26(6)
Subject
Language
ISSN
1098-3600