| 1 | IMD21, PRAAS5, PSMB10 |
| Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome. | |
| van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. | |
| Am J Hum Genet. Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18 2024 | |