| 1 | MRX12, THOC2
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| THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
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| Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J.
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| Am J Hum Genet 97(2):302-10. doi: 10.1016/j.ajhg.2015.05.021. Epub 2015 Jul 9.
2015
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| 2 | STAG2, THOC2, XIAP
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| Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
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| Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M.
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| Am J Med Genet A 164A(8):1923-30. doi: 10.1002/ajmg.a.36570. Epub 2014 Apr 14.
2014
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| 3 | PTK2, THOC2
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| A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
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| Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A.
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| J Med Genet 50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7.
2013
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| 4 | THOC1, THOC2, THOC3, THOC4
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| Molecular evidence that the eukaryotic THO/TREX complex is required for efficient transcription elongation.
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| Rondon AG, Jimeno S, Garcia-Rubio M, Aguilera A.
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| J Biol Chem 278(40):39037-43. Epub 2003 Jul 18. 2003
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| 5 | THOC1, THOC3, THOC2
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| TREX is a conserved complex coupling transcription with messenger RNA export.
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| Strasser K, Masuda S, Mason P, Pfannstiel J, Oppizzi M, Rodriguez-Navarro S, Rondon AG, Aguilera A, Struhl K, Reed R, Hurt E.
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| Nature 417(6886):304-8. 2002
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