Biallelic variants in ADARB1 , encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

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Authors: Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden

Journal title: Journal of Medical Genetics

Journal publisher: British Medical Association

Published year: 2020

Published pages: jmedgenet-2020-107048

DOI identifier: 10.1136/jmedgenet-2020-107048

ISSN: 0022-2593