Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.E139K
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ADA

NM_000022.4:p.E139K

Associated Papers

Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.

Wen W et al.

Journal of Medical Genetics, 2024

38724173 (PubMed )
Supplement: jmg-2023-109667supp006.xlsx › Sheet1

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.

Verhagen MV et al.

Journal of Clinical 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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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."