Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G216V
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ADA2

NM_001282225.2:p.G216V

Associated Papers

Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.

Abe-Ridgway K et al.

Ophthalmic Genetics, 2025

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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."