Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review - Kotzaeridou, Urania; Young-Baird, Sara K.; Suckow, Vanessa; Thornburg, Alexis G.; Wagner, Matias; Harting, Inga; Christ, Stine; Strom, Tim; Dever, Thomas E.; Kalscheuer, Vera M. (Clinical genetics, 2020)
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