Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.L132insFs
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ADA

NM_000022.4:p.L132insFs

Associated Papers

Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency.

Toskov V et al.

Journal of Clinical Immunology, 2024

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."