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Biallelic variants in ADARB1 , encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Maroofian, Reza, SedmÃk, JiÅÃ, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, PJournal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2020-107048
Date:
July, 2020
Fichier:
PDF, 1.85 MB
2020