Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Summary

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Authors: Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura A. Adang, Loveline A. Ayuk, Lien Van Eyck, Luis Seabra, Christophe Barrea, Roberta Battini, Alexandre Belot, Stefan Berg, Thierry Billette de Villemeur, Annette E. Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darin, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Dian

Journal title: Human Mutation

Journal number: 41/4

Journal publisher: John Wiley & Sons Inc.

Published year: 2020

Published pages: 837-849

DOI identifier: 10.1002/humu.23975

ISSN: 1059-7794