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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Pubmed ID: 
31794024
Year: 
2020
Month: 
01
Volume: 
143
Issue: 
1
Citation: 
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain : a journal of neurology 143 (1) : 112 - 130(2020) PubMed