Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

Authors: M.M. Zwartkruis, M.G. Elferink, D. Gommers, I. Signoria, L. Blasco-Pérez, M. Costa-Roger, J. van der Sel, I.J. Renkens, J.W. Green, J.V. Kortooms, C. Vermeulen, R. Straver, H.W.M. van Deutekom, J.H. Veldink, F. Asselman, E.F. Tizzano, R.I. Wadman, W.L. van der Pol, G.W. van Haaften, E.J.N. Groen