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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis by Schwerd, T, Twigg, SRF, Aschenbrenner, D, Manrique, S, Miller, KA, Taylor, IB, Capitani, M, McGowan, SJ, Sweeney, E, Weber, A, Chen, L, Bowness, P, Riordan, A, Cant, A, Freeman, AF, Milner, JD, Holland, SM, Frede, N, Müller, M, Schmidt-Arras, D, Grimbache, B, Wall, SA, Jones, EY, Wilkie, AOM, Uhlig, HH
Published 2017Journal article