Varaico: Literature-Extracted Genetic Variants

Gene:IFNA1
Variant:p.C16Y
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IFNA1

NM_024013.3:p.C16Y

Associated Papers

Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.

Ehlers L et al.

The Journal of Allergy and Clinical Immunology, 2025

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.

Chen L et al.

The Journal of Allergy and Clinical Immunology, 2023

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Pilania RK et al.

Frontiers in Immunology, 2022

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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."