Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

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Authors: Steyaert W, Haer-Wigman L, Pfundt R, Hellebrekers D, Steehouwer M, Hampstead J, de Boer E, Stegmann A, Yntema H, Kamsteeg EJ, Brunner H, Hoischen A, Gilissen C.

Journal title: Nature Communications

Journal number: Volume 14, Issue 2

Journal publisher: Nature Publishing Group

Published year: 2023

Published pages: 6845

DOI identifier: 10.1038/s41467-023-42531-9

ISSN: 2041-1723