Varaico: Literature-Extracted Genetic Variants

Gene:PSMB10
Variant:p.F14del1
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PSMB10

NM_002801.4:p.F14del1

Associated Papers

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

Zhang J et al.

Journal of Clinical Immunology, 2024

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).

Papendorf JJ et al.

Frontiers in Immunology, 2023

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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."