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 |
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