Varaico: Literature-Extracted Genetic Variants

Gene:PSMB4
Variant:p.Y222*
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PSMB4

NM_002796.3:p.Y222*

Associated Papers

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

Singh S et al.

Journal of Translational Autoimmunity, 2026

An Update on Autoinflammatory Diseases: Interferonopathies.

Davidson S et al.

Current Rheumatology Reports, 2018

Understanding mutational effects in digenic diseases.

Gazzo A et al.

Nucleic Acids Research, 2017

28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf

Genetic interferonopathies: An overview.

Eleftheriou D et al.

Best Practice & Research. Clinical Rheumatology, 2017

[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

Dysfunctional immunoproteasomes in autoinflammatory diseases.

Arimochi H et al.

Inflammation and Regeneration, 2016

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."