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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
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. Maroofian R, et al. J Med Genet. 2021 Jul;58(7):495-504. doi: 10.1136/jmedgenet-2020-107048. Epub 2020 Jul 27. J Med Genet. 2021. PMID: 32719099 Free PMC article.
The many roles of an RNA editor.
Keegan LP, Gallo A, O'Connell MA. Keegan LP, et al. Nat Rev Genet. 2001 Nov;2(11):869-78. doi: 10.1038/35098584. Nat Rev Genet. 2001. PMID: 11715042 Review.
237 results