van der Made, C. I., Kersten, S., Chorin, O., Engelhardt, K. R., Ramakrishnan, G., Griffin, H., Schim van der Loeff, I., Venselaar, H., Rothschild, A. R., Segev, M., Schuurs-Hoeijmakers, J. H. M., Mantere, T.
, Essers, R., Esteki, M. Z., Avital, A. L., Loo, P. S., Simons, A., Pfundt, R., Warris, A., ... Hoischen, A. (2024).
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
American Journal of Human Genetics,
111(4), 791-804.
https://doi.org/10.1016/j.ajhg.2024.02.013