Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
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Nat Commun. 2021 Nov 24;12(1):6819. doi: 10.1038/s41467-021-27085-y.
Nat Commun. 2021.
PMID: 34819510
Free PMC article.