Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.G74V
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ADA

NM_000022.4:p.G74V

Associated Papers

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Pajno R et al.

Journal of Clinical Immunology, 2020

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Cicalese MP et al.

Blood, 2016

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

Candotti F et al.

Blood, 2012

Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy.

Sauer AV et al.

The Journal of Clinical Investigation, 2012

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Aiuti A et al.

The New England Journal of Medicine, 2009

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

Hershfield MS

Current Opinion in Immunology, 2003

Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy.

Otsu M et al.

Human Gene Therapy, 2002

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

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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."