Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.I232_A233del1
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PSMB8

NM_148919.4:p.I232_A233del1

Associated Papers

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."