Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

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Authors: Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben-Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Lubica Dudakova, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru

Journal title: Genetics in Medicine

Journal publisher: Lippincott Williams & Wilkins Ltd.

Published year: 2020

DOI identifier: 10.1038/s41436-020-0787-4

ISSN: 1098-3600