Associated Papers
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI et al.
American Journal of Human Genetics, 2024
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM2_ESM.pdf
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