Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.A83T
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ADA

NM_000022.4:p.A83T

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.

Alsediq N et al.

Frontiers in Immunology, 2025

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Essadssi S et al.

Journal of Immunology Research, 2019

31781678 (PubMed )
Supplement: 5902391.f1.pdf
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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."