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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMB4

Variant:p.Y223fs

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PSMB4

NM_002796.3:p.Y223fs

hg38:chr1:151401329 TAC>N

Associated Papers

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

Zhang J et al.

Journal of Clinical Immunology, 2024

38578475 (PubMed )

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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."