Varaico: Literature-Extracted Genetic Variants

Gene:DEF6
Variant:p.E331K
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DEF6

NM_022047.4:p.E331K

Associated Papers

Inborn errors of regulatory T-cell differentiation and function.

Oktelik FB et al.

The Journal of Allergy and Clinical Immunology, 2025

Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.

Jamee M et al.

Allergologia Et Immunopathologia, 2024

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK et al.

Nature Communications, 2019

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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."