Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L183P
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ADA2

NM_001282225.2:p.L183P

Associated Papers

Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.

Bulté D et al.

The Journal of Allergy and Clinical Immunology, 2025

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.

Drago E 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."