Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Titel:
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Auteur:
Frost, F. Graeme Morimoto, Marie Sharma, Prashant Ruaud, Lyse Belnap, Newell Calame, Daniel G. Uchiyama, Yuri Matsumoto, Naomichi Oud, Machteld M. Ferreira, Elise A. Narayanan, Vinodh Rangasamy, Sampath Huentelman, Matt Emrick, Lisa T. Sato-Shirai, Ikuko Kumada, Satoko Wolf, Nicole I. Steinbach, Peter J. Huang, Yan Pusey, Barbara N. Passemard, Sandrine Levy, Jonathan Drunat, Séverine Vincent, Marie Guet, Agnès Agolini, Emanuele Novelli, Antonio Digilio, Maria Cristina Rosenfeld, Jill A. Murphy, Jennifer L. Lupski, James R. Vezina, Gilbert Macnamara, Ellen F. Adams, David R. Acosta, Maria T. Tifft, Cynthia J. Gahl, William A. Malicdan, May Christine V.