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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2020 | 3 |
2021 | 1 |
2024 | 0 |
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet. 2021 Feb;29(2):271-279. doi: 10.1038/s41431-020-00717-5. Epub 2020 Sep 8.
Eur J Hum Genet. 2021.
PMID: 32901138
Free PMC article.
Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
Kaur P, Kadavigere R, Girisha KM, Shukla A.
Kaur P, et al.
Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046.
Brain. 2020.
PMID: 32125366
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.
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