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An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression by Flanagan, SE, Dũng, VC, Houghton, JAL, De Franco, E, Ngoc, CTB, Damhuis, A, Ashcroft, FM, Harries, LW, Ellard, S
Published 2017Journal article -
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants by Johnston, JJ, van der Smagt, JJ, Rosenfeld, JA, Pagnamenta, AT, Alswaid, A, Baker, EH, Blair, E, Borck, G, Brinkmann, J, Craigen, W, Dung, VC, Emrick, L, Everman, DB, van Gassen, KL, Gulsuner, S, Harr, MH, Jain, M, Kuechler, A, Leppig, KA, McDonald-McGinn, DM, Can, NTB, Peleg, A, Roeder, ER, Rogers, RC, Sagi-Dain, L, Sapp, JC, Schäffer, AA, Schanze, D, Stewart, H, Taylor, JC, Verbeek, NE, Walkiewicz, MA, Zackai, EH, Zweier, C, Zenker, M, Lee, B, Biesecker, LG
Published 2018Journal article