Varaico: Literature-Extracted Genetic Variants

Gene:PSMB4
Variant:p.A3A
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PSMB4

NM_002796.3:p.A3A

Associated Papers

"CANDLE syndrome: A closer look at a rare autoinflammatory disorder".

Singh S et al.

Journal of Translational Autoimmunity, 2026

A child with CANDLE syndrome presenting as seronegative polyarthritis following early chemotherapy.

Cooray S et al.

Rheumatology (oxford, England), 2026

Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS.

Dafun AS et al.

Cells, 2023

KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Takeichi T et al.

Frontiers in Immunology, 2020

An Update on Autoinflammatory Diseases: Interferonopathies.

Davidson S et al.

Current Rheumatology Reports, 2018

[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].

Feist E et al.

Zeitschrift Fur Rheumatologie, 2017

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.

Torrelo A

Frontiers in Immunology, 2017

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A et al.

The Journal of Clinical Investigation, 2015

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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."