Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.I30K
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ADA2

NM_001282225.2:p.I30K

Associated Papers

Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.

Bukhari SI et al.

Expert Review of Hematology, 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."