Varaico: Literature-Extracted Genetic Variants

Gene:PSMB10
Variant:p.G156D
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PSMB10

NM_002801.4:p.G156D

Associated Papers

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

Zhang J et al.

Journal of Clinical Immunology, 2024

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

van der Made CI et al.

American Journal of Human Genetics, 2024

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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."