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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C; MCRI Rare Diseases Flagship; Wickramasinghe VO, White SM, Christodoulou J. Van Bergen NJ, et al. Among authors: wickramasinghe vo. Hum Mol Genet. 2022 Feb 3;31(3):362-375. doi: 10.1093/hmg/ddab248. Hum Mol Genet. 2022. PMID: 34494102 Free PMC article.
mRNA export from mammalian cell nuclei is dependent on GANP.
Wickramasinghe VO, McMurtrie PI, Mills AD, Takei Y, Penrhyn-Lowe S, Amagase Y, Main S, Marr J, Stewart M, Laskey RA. Wickramasinghe VO, et al. Curr Biol. 2010 Jan 12;20(1):25-31. doi: 10.1016/j.cub.2009.10.078. Epub 2009 Dec 10. Curr Biol. 2010. PMID: 20005110 Free PMC article.
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