@misc{indiciaece49609498fb, title = {Myopathy-causing variants of PYROXD1 converge on impaired RNA ligation}, author = {Guzman-Perez, S. and Kleinwaechter, M. and Ozeren, M. S. and Catharin, A. and Weitzer, S. and Milasinovic, M. and Yaman, M. B. and Gorbenkova, A. and Hahn, M. and Koglgruber, R. and Hollenstein, D. and Penninger, J. M. and Hartl, M. and Cooper, S. T. and Evesson, F. J. and Martinez, J. and Asanovic, I.}, year = {2026}, doi = {10.64898/2026.10.09.758034}, url = {https://www.biorxiv.org/content/10.64898/2026.10.09.758034v1}, note = {Source identifier: 10.64898/2026.10.09.758034} }