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

JOURNAL OF MEDICAL GENETICS

Maroofian, R; Sedmík, J; Mazaheri, N; Scala, M; Zaki, MS; Keegan, LP; Azizimalamiri, R; Issa, M; Shariati, G; Sedaghat, A; Beetz, C; Bauer, P; Galehdari, H; O´Connell, MA; Houlden, H, 2020: Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. JOURNAL OF MEDICAL GENETICS , doi: 10.1136/jmedgenet-2020-107048

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