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BACKGROUND: Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during mem ...

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J Biomed Opt. 2017 09 01;22(9):91515 Authors: Sobol E, Baum O, Shekhter A, Wachsmann-Hogiu S, Shnirelman A, Alexandrovskaya Y, Sadovskyy I, Vinokur V

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