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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit b- type 10 in six infants with SCID-Omenn syndrome

Lookup NU author(s): Dr Karin Engelhardt, Dr Helen GriffinORCiD, Dr Ina Schim van der LoeffORCiD, Professor Mary Slatter, Dr Terence Flood, Professor Andrew GenneryORCiD, Professor Sophie HambletonORCiD

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Author(s): van der Made C, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, van der Loeff IS, 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 F, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AM, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SRVS, Hoischen A

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2024

Issue: ePub ahead of Print

Online publication date: 18/03/2024

Acceptance date: 22/02/2024

Date deposited: 19/03/2024

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2024.02.013

DOI: 10.1016/j.ajhg.2024.02.013

ePrints DOI: 10.57711/c9ds-eg21

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