Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.E337del1
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ADA

NM_000022.4:p.E337del1

Associated Papers

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

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.

Bradford KL et al.

Journal of Clinical Immunology, 2017

Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

Baffelli R et al.

Journal of Clinical Immunology, 2015

polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency.

Lainka E et al.

Clinical and Diagnostic Laboratory Immunology, 2005

Adenosine deaminase: functional implications and different classes of inhibitors.

Cristalli G et al.

Medicinal Research Reviews, 2001

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Ariga T et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega FX et al.

American Journal of Human Genetics, 1998

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

Arrendondo-Vega FX et al.

Human Mutation, 1998

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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."