Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
scientific article published on 20 March 2020
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author: Gemma L Carvill, Katherine L Helbig, Ingrid Scheffer, Lynette Sadleir, Heather C. Mefford, Evelyn Sattlegger, Gaetan Lesca, Pasquale Striano, Deepak Gill, Eva Brilstra, Sergio Padilla-Lopez, Christel Depienne, Somayeh Bakhtiari, Candace T Myers, Caroline Nava, Sara A Lewis, Andrea Accogli, Marcello Scala, Giorgio Casari, Valeria Capra, Mariasavina Severino, Gemma L Carvill, Katherine L Helbig
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