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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NBEAL2

Variant:p.T2487fs

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NBEAL2

NM_015175.3:p.T2487fs

hg38:chr3:47007649 A>AN

Associated Papers

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.

Delage L et al.

Nature Communications, 2023

37349339 (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."