Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.L343P
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ADA

NM_000022.4:p.L343P

Associated Papers

A novel mutation of adenosine deaminase causing SCID presenting as hemophagocytic lymphohistiocytosis with acute kidney injury.

Chidambaram AC et al.

British Journal of Haematology, 2020

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

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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