Associated Papers
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion.
Bernacchia A et al.
Journal of Clinical Immunology, 2024
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
de Jesus AA et al.
The Journal of Allergy and Clinical Immunology, 2019
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