Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
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J. Shendure | D. Nickerson | Martin Kircher | M. Bamshad | H. Freeze | K. Buckingham | J. Abdenur | J. V. Van Hove | R. Collard | Raymond Y. Wang | M. Simon | R. Chang | M. Boyer | B. Ng | Marisa W. Friederich