Varaico: Literature-Extracted Genetic Variants

Gene:PSMA3
Variant:p.R233del1
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PSMA3

NM_002788.4:p.R233del1

Associated Papers

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Boudellioua I et al.

Scientific Reports, 2018

An Update on Autoinflammatory Diseases: Interferonopathies.

Davidson S et al.

Current Rheumatology Reports, 2018

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."