Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.R101L
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ADA

NM_000022.4:p.R101L

Associated Papers

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Pajno R 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

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

Adams SP et al.

Clinical Immunology (orlando, Fla.), 2015

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Nikolajeva O et al.

Journal of Clinical Immunology, 2015

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Candotti F et al.

Blood, 2012

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.

Levy R et al.

Human Mutation, 2011

21898656 (PubMed )
Supplement: supplement_1.pdf

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Hershfield MS

Current Opinion in Immunology, 2003

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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."