Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.L130delFs
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PSMB8

NM_148919.4:p.L130delFs

Associated Papers

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.

Cuinat S et al.

Genes & Diseases, 2024

Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.

Miyamoto T et al.

Frontiers in Immunology, 2022

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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."