Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.Q55*
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PSMB8

NM_148919.4:p.Q55*

Associated Papers

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Chase CL et al.

Journal of the Endocrine Society, 2025

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).

Papendorf JJ et al.

Frontiers in Immunology, 2023

Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib.

Patel PN et al.

Pediatric Dermatology, 2021

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA et al.

The Journal of Clinical Investigation, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."