Varaico: Literature-Extracted Genetic Variants

Gene:PSMB2
Variant:p.G48R
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PSMB2

NM_002794.5:p.G48R

Associated Papers

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

Kuehn HS et al.

The Journal of Allergy and Clinical Immunology, 2025

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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."