A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome | Laila Abd Elmotelab

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Citation:: Ghosh, S. G., M. Scala, C. Beetz, G. Helman, V. Stanley, L. Selim, and J. G. Gleeson, "A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome", European Journal of Human Genetics, vol. 29, pp. 271-279, 2021.