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Wiley, Human Mutation: Variation, Informatics and Disease, 7(41), p. 1263-1279, 2020

DOI: 10.1002/humu.24015

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Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Journal article published in 2020 by Gemma L. Carvill ORCID, Katherine L. Helbig ORCID, Candace T. Myers, Marcello Scala, Robert Huether, Sara Lewis ORCID, Tyler N. Kruer, Brandon S. Guida, Somayeh Bakhtiari, Joy Sebe, Sha Tang, Heather Stickney, Sehribani Ulusoy Oktay, Ashwin A. Bhandiwad, Keri Ramsey and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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