Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.T294K
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ADA

NM_000022.4:p.T294K

Associated Papers

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

Cicalese MP et al.

Blood, 2016

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

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G et al.

The Journal of Allergy and Clinical Immunology, 2013

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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."