Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

Tummala, H; Dokal, AD; Walne, A; Ellison, A; Cardoso, S; Amirthasigamanipillai, S; Kirwan, M; ... Vulliamy, T; + view all Tummala, H; Dokal, AD; Walne, A; Ellison, A; Cardoso, S; Amirthasigamanipillai, S; Kirwan, M; Browne, I; Sidhu, JK; Rajeeve, V; Rio-Machin, A; Al Seraihi, A; Duncombe, AS; Jenner, M; Smith, OP; Enright, H; Norton, A; Aksu, T; Ozbek, NY; Pontikos, N; Cutillas, P; Dokal, I; Vulliamy, T; - view fewer (2018) Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants. Proceedings of the National Academy of Sciences , 115 (30) pp. 7777-7782. 10.1073/pnas.1803275115 . Green open access

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