| 1 | MIDSSA, MRT55, PUS3, PUS7, TRUB1
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| Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
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| de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S.
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| Am J Hum Genet 103(6):1045-1052. doi: 10.1016/j.ajhg.2018.10.026.
2018
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| 2 | PUS7
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| Pseudouridylation of tRNA-Derived Fragments Steers Translational Control in Stem Cells.
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| Guzzi N, Cieśla M, Ngoc PCT, Lang S, Arora S, Dimitriou M, Pimková K, Sommarin MNE, Munita R, Lubas M, Lim Y, Okuyama K, Soneji S, Karlsson G, Hansson J, Jönsson G, Lund AH, Sigvardsson M, Hellström-Lindberg E, Hsieh AC, Bellodi C.
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| Cell 173(5):1204-1216.e26. doi: 10.1016/j.cell.2018.03.008. Epub 2018 Apr 5.
2018
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| 3 | PUS7, TRUB1
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| TRUB1 is the predominant pseudouridine synthase acting on mammalian mRNA via a predictable and conserved code.
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| Safra M, Nir R, Farouq D, Vainberg Slutskin I, Schwartz S.
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| Genome Res 27(3):393-406. doi: 10.1101/gr.207613.116. Epub 2017 Jan 10. Erratum in: Genome Res. 2017 Aug;27(8):1460.
2017
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