Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.Q125P
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PSMB8

NM_148919.4:p.Q125P

Associated Papers

Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.

Zhang J et al.

Journal of Clinical Immunology, 2024

Chinese case of Nakajo-Nishimura syndrome with a novel mutation of the PSMB8 gene.

Shi X et al.

The Journal of Dermatology, 2019

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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."