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Saturation_Genome_Editing_of_NUDCD3___

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NIAID Data Ecosystem2026-05-02 收录
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https://www.ncbi.nlm.nih.gov/sra/ERP160308
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NUDCD3 encodes a ubiquitously expressed, p23-domain-containing protein which exhibits both co-chaperone and intrinsic chaperone activity. Pathogenic variants in NUDCD3 have been associated with inborn genetic diseases, and a homozygous NUDCD3 missense variant was found in infants with Omenn syndrome, a leaky block in T cell development leading to a severe combined immunodeficiency (SCID) like susceptibility to infections in infants. Hence, we aim to perform a deep mutation scan of NUDCD3 through saturation genome editing, to functionally characterize the pathogenicity of NUDCD3 variants.
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2025-07-24
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