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Paper Details

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
22
2020
Author NameAffiliation
Robert HuetherDivision of Clinical Genomics
Robert HuetherDivision of Clinical Genomics
Timothy Feyma
Luis RohenaSan Antonio Military Medical Center
Luis RohenaLong School of Medicine, University of Texas
Deepak GillThe Children's Hospital at Westmead
Lynette G SadleirUniversity of Otago Wellington
Angela E LinMassGeneral Hospital for Children, Harvard Medical School
Giorgio CasariIRCCS Istituto Giannina Gaslini
Giorgio CasariUniversita degli Studi di Genova
Ingrid E SchefferUniversity of Melbourne and Austin Health Royal Children's Hospital
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Release 1.2