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

Authors

  1. Correspondence to Dr Henry Houlden, Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1E 6BT, UK; h.houlden{at}ucl.ac.uk; Dr Mary A O’Connell; mary.oconnell{at}ceitec.muni.cz
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Citation

Maroofian R, Sedmík J, Mazaheri N, et al
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Publication history

  • Received March 30, 2020
  • Revised May 20, 2020
  • Accepted June 5, 2020
  • First published July 27, 2020.

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