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1.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
J Clin Immunol
; 41(6): 1272-1290, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33929673
2.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv
; 6(7): 2444-2451, 2022 04 12.
Article
in English
| MEDLINE | ID: mdl-34920454
3.
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Nat Genet
; 53(4): 500-510, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33782605
4.
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Nat Genet
; 54(2): 213, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34987219
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