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Meili, D; Kralovicova, J; Zagalak, J; Bonafé, L; Fiori, L; Blau, N; Thöny, B; Vorechovsky, I (2009). Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human Mutation, 30(5):823-831.