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Comment
. 2020 Apr 1;143(4):e29.
doi: 10.1093/brain/awaa046.

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Parneet Kaur  1 , Rajagopal Kadavigere  2 , Katta Mohan Girisha  1 , Anju Shukla  1
Affiliations
Comment

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Parneet Kaur et al. Brain. .
No abstract available

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  • Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
    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. Van Bergen NJ, et al. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.