A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia

Autor: Dyment, D.A., Backman, K., Mears, W.E., Waheeb, A., Beaulieu Bergeron, M., McClintock, J., de Nanassy, J., Reisman, J., Osmond, M., Hartley, T., Mears, A.J., Kernohan, K.D.
Zdroj: In European Journal of Medical Genetics May 2021 64(5)
Databáze: ScienceDirect