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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD3E

Variant:p.D137_I138insFs

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CD3E

NM_000733.4:p.D137_I138insFs

hg38:chr11:118313764 A>AC

Associated Papers

T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.

Roberts JL et al.

Blood, 2007

17170122 (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."