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

  • Published on: July 16 2024
  • Source: medRxiv
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

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