Varaico: Literature-Extracted Genetic Variants

Gene:PSMD9
Variant:p.G11S
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PSMD9

NM_002813.7:p.G11S

Associated Papers

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Kanazawa N et al.

Nature Communications, 2021

34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM2_ESM.pdf
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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."