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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUDCD3

Variant:p.G52D

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NUDCD3

NM_015332.4:p.G52D

hg38:chr7:44490446 C>T

Associated Papers

NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.

Chen R et al.

Science Immunology, 2024

38787962 (PubMed )

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