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ER-to-Golgi Transport: A Sizeable Problem.
McCaughey J, Stephens DJ. McCaughey J, et al. Trends Cell Biol. 2019 Dec;29(12):940-953. doi: 10.1016/j.tcb.2019.08.007. Epub 2019 Oct 17. Trends Cell Biol. 2019. PMID: 31630879 Review.
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J, Stephens DJ. Balasubramanian M, et al. J Med Genet. 2018 Mar;55(3):158-165. doi: 10.1136/jmedgenet-2017-104899. Epub 2017 Dec 20. J Med Genet. 2018. PMID: 29263160 Free article.