Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.G209R
Back to variants list

PSMB8

NM_148919.4:p.G209R

Associated Papers

Neonatal-Onset CANDLE/PRAAS due to PSMB8 p.Gly209Arg: Clinical Course and Baricitinib Response.

López-Cano J et al.

International Journal of Dermatology, 2025

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

Wolfgramm S et al.

Annals of the Rheumatic Diseases, 2025

Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies.

Kretzschmar G et al.

Journal of Clinical Immunology, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."