机译:Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Baylor College of Medicine,Baylor Coll Med;
Harvard University,Boston Childrens Hosp;
Baylor College of Medicine,Texas Childrens HospYong Loo Lin Sch Med,Natl Univ SingaporeTelethon Inst Genet & MedDept Clin Genet,Cook Childrens HospDept Neurol & Epileptol,Cook Childrens HospSeattle Childrens Hosp,Univ WashingtonCtr Rare Dis & Birth Defects,Fdn Policlin Univ A GemelliTranslat Cytogen Res Unit,Bambino Gesu Pediat HospDept Pediat,Carl Thiem Klinikum CottbusKaiser PermanenteDept Genet & Mol Med,Hosp Lithuanian Univ Hlth Sci Kauno KlinDept Paediat Neurol,Chelsea & Westminster NHS Fdn TrustInst Human Genet,Tech Univ MunichPraxis Humangenet CottbusInst Human Genet,Univ Leipzig Med CtrLab ImmunoRhumatol Mol,ITI TRANSPLANTEX NG,Univ StrasbourgServ Genet Med,Ctr Hosp Univ NantesDept Pediat,Childrens Hosp PhiladelphiaSheba Med Ctr,Edmond & Lilly Safra Childrens HospClin Genom Program,GeneDxDept Pediat,Baylor Coll Med;
TRANSLATION INITIATION; GENE-EXPRESSION; Q-MOTIF; MUTATIONS; RNA; HELICASES; BINDING; DDX3X;