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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADA2

Variant:p.M144_Q145insG

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ADA2

NM_001282225.2:p.M144_Q145insG

hg38:chr22:17207183 T>TNNN

Associated Papers

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

Kaplan Sarıkavak S et al.

Frontiers in Immunology, 2025

41112235 (PubMed )

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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."