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    • A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. 

      Rivas, M A; Graham, D; Sulem, P; Stevens, C; Desch, A N; Goyette, P; Gudbjartsson, D; Jonsdottir, I; Thorsteinsdottir, U; Degenhardt, F; Mucha, S; Kurki, M I; Li, D; D'Amato, M; Annese, V.; Vermeire, S; Weersma, R K; Halfvarson, J.; Paavola-Sakki, P; Lappalainen, M; Lek, M; Cummings, B; Tukiainen, T; Haritunians, T; Halme, L; Koskinen, L L E; Ananthakrishnan, A N; Luo, Y; Heap, Graham A.; Visschedijk, M C; MacArthur, D G; Neale, B M; Ahmad, Tariq; Anderson, C A; Brant, S R; Duerr, R H; Silverberg, MS; Cho, J H; Palotie, A.; Saavalainen, P; Kontula, K; Färkkilä, M; McGovern, D P B; Franke, A; Stefansson, K; Rioux, J D; Xavier, R J; Daly, M J; Barrett, J; de Lane, K; Edwards, C; Hart, A; Hawkey, C; Jostins, L; Kennedy, N; Lamb, C; Lee, J; Lees, C; Mansfield, J; Mathew, C; Mowatt, C; Newman, B; Nimmo, E; Parkes, M; Pollard, M; Prescott, N; Randall, J; Rice, D; Satsangi, J; Simmons, A; Tremelling, M; Uhlig, H; Wilson, D; Abraham, C; Achkar, J P; Bitton, A; Boucher, G; Croitoru, K; Fleshner, P; Glas, J; Kugathasan, S; Limbergen, J V; Milgrom, R; Proctor, D; Regueiro, M; Schumm, P L; Sharma, Y; Stempak, J M; Targan, S R; Wang, M H (Nature, 2016-08)
      Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection ...