A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
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Ghosh SG, et al. Among authors: hadipour f.
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.